ID BAHC1_HUMAN Reviewed; 2639 AA.
AC Q9P281; A0A075B747; Q5U629;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 4.
DT 24-JAN-2024, entry version 133.
DE RecName: Full=BAH and coiled-coil domain-containing protein 1 {ECO:0000305};
DE AltName: Full=Bromo adjacent homology domain-containing protein 2;
DE Short=BAH domain-containing protein 2;
GN Name=BAHCC1 {ECO:0000312|HGNC:HGNC:29279};
GN Synonyms=BAHD2, KIAA1447 {ECO:0000303|PubMed:10819331};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 745-2465, AND VARIANTS ALA-1168
RP AND ALA-1678.
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2451-2639.
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-222, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2274, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
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DR EMBL; AC110285; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC139149; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC213194; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AADB02019016; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB040880; BAA95971.1; -; mRNA.
DR EMBL; BC033222; AAH33222.1; -; mRNA.
DR CCDS; CCDS92415.1; -.
DR RefSeq; NP_001278253.1; NM_001291324.1.
DR AlphaFoldDB; Q9P281; -.
DR SMR; Q9P281; -.
DR BioGRID; 121648; 25.
DR IntAct; Q9P281; 15.
DR STRING; 9606.ENSP00000462154; -.
DR GlyGen; Q9P281; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9P281; -.
DR PhosphoSitePlus; Q9P281; -.
DR BioMuta; BAHCC1; -.
DR DMDM; 205371795; -.
DR EPD; Q9P281; -.
DR jPOST; Q9P281; -.
DR MassIVE; Q9P281; -.
DR PaxDb; 9606-ENSP00000462154; -.
DR PeptideAtlas; Q9P281; -.
DR ProteomicsDB; 83747; -.
DR Pumba; Q9P281; -.
DR Antibodypedia; 75308; 11 antibodies from 6 providers.
DR Ensembl; ENST00000584436.7; ENSP00000462154.4; ENSG00000266074.11.
DR GeneID; 57597; -.
DR KEGG; hsa:57597; -.
DR AGR; HGNC:29279; -.
DR CTD; 57597; -.
DR DisGeNET; 57597; -.
DR GeneCards; BAHCC1; -.
DR HGNC; HGNC:29279; BAHCC1.
DR HPA; ENSG00000266074; Tissue enhanced (brain).
DR MIM; 617646; gene.
DR neXtProt; NX_Q9P281; -.
DR OpenTargets; ENSG00000266074; -.
DR PharmGKB; PA128394719; -.
DR VEuPathDB; HostDB:ENSG00000266074; -.
DR eggNOG; KOG1886; Eukaryota.
DR GeneTree; ENSGT00940000160116; -.
DR InParanoid; Q9P281; -.
DR OrthoDB; 5401688at2759; -.
DR PhylomeDB; Q9P281; -.
DR PathwayCommons; Q9P281; -.
DR SignaLink; Q9P281; -.
DR BioGRID-ORCS; 57597; 11 hits in 286 CRISPR screens.
DR ChiTaRS; BAHCC1; human.
DR GenomeRNAi; 57597; -.
DR Pharos; Q9P281; Tdark.
DR PRO; PR:Q9P281; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9P281; Protein.
DR Bgee; ENSG00000266074; Expressed in right hemisphere of cerebellum and 112 other cell types or tissues.
DR ExpressionAtlas; Q9P281; baseline and differential.
DR GO; GO:0003682; F:chromatin binding; IEA:InterPro.
DR CDD; cd04714; BAH_BAHCC1; 1.
DR CDD; cd20470; Tudor_BAHCC1; 1.
DR Gene3D; 2.30.30.140; -; 1.
DR Gene3D; 2.30.30.490; -; 1.
DR InterPro; IPR001025; BAH_dom.
DR InterPro; IPR043151; BAH_sf.
DR InterPro; IPR048924; BAHCC1-like_Tudor.
DR InterPro; IPR047411; Tudor_BAHCC1.
DR PANTHER; PTHR12505:SF22; BAH AND COILED-COIL DOMAIN-CONTAINING PROTEIN 1; 1.
DR PANTHER; PTHR12505; PHD FINGER TRANSCRIPTION FACTOR; 1.
DR Pfam; PF01426; BAH; 1.
DR Pfam; PF21744; BAHCC1-like_Tudor; 1.
DR SMART; SM00439; BAH; 1.
DR PROSITE; PS51038; BAH; 1.
PE 1: Evidence at protein level;
KW Acetylation; Coiled coil; Phosphoprotein; Reference proteome.
FT CHAIN 1..2639
FT /note="BAH and coiled-coil domain-containing protein 1"
FT /id="PRO_0000312118"
FT DOMAIN 2513..2633
FT /note="BAH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00370"
FT REGION 23..49
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 84..107
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 188..249
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 669..702
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 716..746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 939..1047
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1104..1331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1457..1513
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1582..1666
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1722..1776
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1868..1893
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2057..2119
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2317..2336
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2348..2383
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2432..2472
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1439..1473
FT /evidence="ECO:0000255"
FT COMPBIAS 195..249
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 680..696
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 945..964
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 976..1016
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1104..1126
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1223..1237
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1248..1275
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1307..1322
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1457..1480
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1868..1890
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2348..2375
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2442..2468
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 222
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT MOD_RES 2274
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 272
FT /note="A -> T (in dbSNP:rs12952981)"
FT /id="VAR_061559"
FT VARIANT 1168
FT /note="T -> A (in dbSNP:rs7213444)"
FT /evidence="ECO:0000269|PubMed:10819331"
FT /id="VAR_059589"
FT VARIANT 1434
FT /note="R -> Q (in dbSNP:rs35572189)"
FT /id="VAR_061560"
FT VARIANT 1678
FT /note="T -> A (in dbSNP:rs12601317)"
FT /evidence="ECO:0000269|PubMed:10819331"
FT /id="VAR_061561"
FT VARIANT 2029
FT /note="V -> I (in dbSNP:rs34680524)"
FT /id="VAR_061562"
FT VARIANT 2510
FT /note="R -> C (in dbSNP:rs8746)"
FT /id="VAR_050685"
SQ SEQUENCE 2639 AA; 280016 MW; 3A21114C7ACF1D9D CRC64;
MDGRDFAPPP HLLSERGSLG HRSAAAAARL APAGPAAQPP AHFQPGKYFP SPLPMASHTA
SSRLMGSSPA SSFMGSFLTS SLGSAASTHP SGPSSSPPEQ AYRGSHPTTS QIWFSHSHEA
PGYPRFSGSL ASTFLPVSHL DHHGNSNVLY GQHRFYGTQK DNFYLRNLPP QPTLLPANHN
FPSVARAAPA HPMGSCSRDR DRGEAGSLQK GPKDFDRFLV GKELGREKAG KAAEGKERPA
AEEDGGKERH KLVLPVPADG HCREGGPAPR GACEGRPKHL TSCLLNTKVL NGEMGRAALA
SCAGGMLGRP GTGVVTSGRC AKEAAGPPEP GPAFSECLER RQMLHHTASY AGPPPPLSTA
AGSFPCLQLH GGPDGLCPLQ DKAPRDLKAS GPTFVPSVGH LADKGRPFQA AEACAVAGEG
KDRHLEGTMA PDHAAPYGVS YAHLKAEGKG ERRPGGFEAA LNPRLKGLDY LSSAGPEASF
PGLPKSGLDK SGYFELPTSS QDCARPGHQD PLGGKAPQAC CTLDKTVGKE APAGPPGAQK
VARIRHQQHL MAAEVEQGGI GAEAKRKSLE LASLGYSGPH LPPWGVQAGQ GTAMAISEER
KAGAYLDPFG SGLQQAALLP QELPAPPDEV SAMKNLLKYS SQALVVGQKA PLVGLGGLKA
SCIQQEAKFL SSKGPGQSER PDCARSREHD TTHGDGEVRQ PPVGIAVALA RQKDTVSRSE
AAYGTNTARQ GRAAPAFKGG GGPRSTHALD LEAEEERTRL CDDRLGLASR ELLLQDSKDR
VEFARIHPPS SCPGDLAPHL MMQSGQLGGD PAPHTHPHPP WLPRTRSPSL WMGGHSYGLG
HPALHQNLPP GFPASVAGPV PSVFPLPQDA PTQLVILPSE PTPHSAPHAL ADVMDQASLW
PPMYGGRGPA SHMQHPGQLP VYSRPQLLRQ QELYALQQQR AAQFQRKPED QHLDLEEPAQ
EKAPKSTHKP VALTPTAPGA PSPAAGPTKL PPCCHPPDPK PPASSPTPPP RPSAPCTLNV
CPASSPGPGS RVRSAEEKNG EGQQSTADII TSEPVARAHS VAHAGLEFLA SNDPSTSASQ
SFGITDLPPG YLRPMAGLGF SLPSDVHSSN LEDPETMQTT APGAQPEPTR TFLPGEPPPC
SPRSLEEPGL LSGAREATQD LAATPYPTER GPQGKAADPS PLEGLQELQC AALLEAGGPE
ATGQAHSTQG GAREERSREE GEQGPSSGAS SQVLEQRAGS PGALEDEGEQ PAPEEDELEE
DELGQQSMED SEEDCGGAPD NSHPPRALPG LDALVAATIN LGDLPSDSPP DPQPPAASGP
PSTVPLPHSS GIHGIALLSE LADLAIQRQR SERTVPEEEE DVLAFNLQHL ATLATAWSLV
EAAGLDSSTA PAQPPTANPC SGPRLTPRMQ ILQRKDTWTP KTKPVCPLKA AIDRLDTQEV
GMRVRLAELQ RRYKEKQREL ARLQRKHDHE RDESSRSPAR RGPGRPRKRK HSSSLPAPRP
TGPLPRSDGK KVKAVRTSLG LLCAELRGGS GGEPAKKRSK LERSVYAGLQ TASVEKAQCK
KSSCQGGLAP SVAHRVAQLK PKVKSKGLPT GLSSFQQKEA TPGGRIREKL SRAKSAKVSG
ATRHPQPKGH GSRETPRCPA QPSVAASQEA GSGYDSEDCE GLLGTEAPPR EAGLLLHTGA
SVAVLGPSPS SVVKMEANQK AKKKKERQGL LGACRLSSPE SEVKIKRRSV KAKVGTTLER
APGQRPPGAL GKKKAKGKAK GSLRAEPGAT PSRDALFNPS RAFACREEGS QLASERLKRA
TRKGTVLQPV LRRKNGALSI TLATRNAKAI LGKGRKLSKV KHKAGKQGKG RAVSRLLESF
AVEEDFEFDD NSSFSEEEED EEEEEEDSGP LSAEQSAALA RSCAIHKEDL RDGLPVLIPK
EDSLLYAGSV RTLQPPDIYS IVIEGERGNR QRIYSLEQLL QEAVLDVRPQ SSRYLPPGTR
VCAYWSQKSR CLYPGNVVRG ASGDEDEDLD SVVVEFDDGD TGHIAVSNVR LLPPDFKIQC
TEPSPALLVS SSCRRTKKVS SEAPPPSEAA TPSLSPKAQD GPEALKTPGK KSISKDKAGK
AELLTSGAKS PTGASDHFLG RRGSPLLSWS AVAQTKRKAV AAASKGPGVL QNLFQLNGSS
KKLRAREALF PVHSVATPIF GNGFRADSFS SLASSYAPFV GGTGPGLPRG AHKLLRAKKA
ERVEAEKGGR RRAGGEFLVK LDHEGVTSPK NKTCKALLMG DKDFSPKLGR PLPSPSYVHP
ALVGKDKKGR APIPPLPMGL ALRKYAGQAE FPLPYDSDCH SSFSDEDEDG PGLAAGVPSR
FLARLSVSSS SSGSSTSSSS GSVSTSSLCS SDNEDSSYSS DDEDPALLLQ TCLTHPVPTL
LAQPEALRSK GSGPHAHAQR CFLSRATVAG TGAGSGPSSS SKSKLKRKEA LSFSKAKELS
RRQRPPSVEN RPKISAFLPA RQLWKWSGNP TQRRGMKGKA RKLFYKAIVR GEETLRVGDC
AVFLSAGRPN LPYIGRIESM WESWGSNMVV KVKWFYHPEE TKLGKRQCDG KNALYQSCHE
DENDVQTISH KCQVVAREQY EQMARSRKCQ DRQDLYYLAG TYDPTTGRLV TADGVPILC
//
