KEGG T01001: 23096

Homo sapiens (human): 23096

Entry

23096 CDS T01001

Gene name

IQSEC2, BRAG1, MRX1

Definition

IQ motif and Sec7 domain 2

Orthology

K12495

IQ motif and SEC7 domain-containing protein

Organism

hsa Homo sapiens (human)

Pathway

hsa04144

Endocytosis

Disease

H00480

Non-syndromic X-linked mental retardation

Class

Cellular Processes; Transport and catabolism; Endocytosis [PATH:hsa04144]

SSDB

Motif

Pfam:

Sec7 DUF607 IQ

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

Xp11.22

AA seq 1488 aa
MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRD
LREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHRELRESQFHQAARDVGYPNRE
GAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHP
GREKEAGYSAAVGVGPRPPRERGQLSRGASRSSSPGAGGGHSTSTSTSPATTLQRKSDGE
NSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQP
ASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQ
YRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKAQNPAYFEGKPASLDEGAMAG
ARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALN
CHPSGPMSEEPGSAQLEKRESKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQ
GRPEFWAPAPLPPVPPPVPSGTREDGSREEGTRRGPGCLECRDFRLRAAHLPLLTIEPPS
DSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGRAPIPHRHYPAPEGPAPAPPG
PLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLESSSNSNETINCSSGSSSRDS
LREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGF
LSDTPVGVAHFILERKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKF
QSHIRVQGEAQKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSV
KAERKMKLDDFIKNLRGVDNGEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVG
KKPVLSLPHRRLVCCCQLYEVPDPNRPQRLGLHQREVFLFNDLLVVTKIFQKKKILVTYS
FRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLIIFNAPSLQDRLRFTSDLRESI
AEVQEMEKYRVESELEKQKGMMRPNASQPGGAKDSVNGTMARSSLEDTYGAGDGLKRGAL
SSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSN
SSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHHGHSHGGLGVLPDG
QSKLQALHAQYCQGPGPAPPPYLPPQQPSLPPPPQQPPPLPQLGSIPPPPASAPPVGPHR
HFHAHGPVPGPQHYTLGRPGRAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPA
HKQGPKHFIFSHHPQMMPAAGAAGGPGSRPPGGSYSHPHHPQSPLSPHSPIPPHPSYPPL
PPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAKPSRISTVV

NT seq 4467 nt +upstreamnt +downstreamnt
atggaggcggggtcggggcccccgggcggcccgggatccgagagcccaaatcgggccgtg
gagtacctgctggagctgaacaacatcatcgagagccagcagcagctgctggaaacccag
cggcggcgcatcgaggagctggagggccagctggaccagctcacccaggagaaccgcgac
ctgcgagaggagagccagctgcaccgcggggagctgcaccgggacccccacggcgcgcgg
gatagcccgggccgcgagagccagtaccagaacctgcgcgagacccagttccaccaccgc
gagctgcgggagagccagttccaccaggcggcccgggacgtgggctacccgaaccgggaa
ggcgcctaccagaatcgggaggctgtgtatcgggacaaggagcgggacgcctcctacccg
ctccaggacactaccggttacacagcccgcgagcgtgacgtggcccagtgccacctgcac
cacgagaacccagccctgggtcgcgagcgtggcgggcgggaggccgggccggcgcacccg
ggccgcgagaaggaagcgggctattcggcggcggtgggcgtggggccgcggccaccgcgg
gagcggggccagctgagccgtggcgcatccaggagctccagtcccggcgccggcggaggc
cacagcaccagtaccagcaccagcccggccacgaccctccagagaaaatctgatggtgag
aattccagaacagtcagtgtggagggtgatgccccaggcagtgacctgagcacagcggtt
gatagtcctgggagccaacccccctaccggctgagccagctgcccccctccagcagccac
atggggggcccccctgctggagtgggccttccctgggctcagcgggcacgcctccagcca
gccagtgtcgccctgaggaagcaggaggaggaggagataaagcgctccaaggccctatcg
gacagctatgaactctccacagacctgcaggacaagaaggtggaaatgctggagaggaag
tatgggggctccttcctgagccgcagggctgccaggaccatccagacagccttccgccag
taccgcatgaacaagaactttgagcggctacgcagctcagcctcagagagccgcatgtcc
cgccgcatcatcctttccaacatgcggatgcagttctcctttgaggagtatgagaaggca
cagaaccccgcgtacttcgagggcaagcctgcctcgctggacgagggtgccatggctggt
gcccggagccaccggcttgaacgggggctcccatatggaggctcctgtggtgggggcatc
gatggtggtggaagctccgtcaccacatctggagagttttctaatgacatcacagaactt
gaggactccttctccaaacaggtaaagtctctggctgaatccatcgacgaagccctgaac
tgccacccgtcagggcccatgtctgaggagccagggtcagcccagctggagaagcgggag
tcaaaggaacagcaagaggacagctcagccacatccttcagtgatcttcccctctacctg
gatgacacagttccccaacaatcccctgagcgactgcccagcacagaacccccaccccag
ggccggcccgagttctgggcgccagcccctctcccgccagttcctccaccagtgccatca
ggaacccgggaagacggtagccgtgaggaaggcactcgcaggggtcccgggtgcttggag
tgccgggatttccggctgcgggctgcccaccttcccctgcttaccattgagcctcctagt
gacagctccgtggacctgagtgaccgctcagatcgcggctctgtccaccgccagctggtg
tatgaggctgatggctgcagcccccatgggaccctgaagcacaaggggccaccaggcagg
gccccgatcccacaccgccactacccagcccctgaaggcccagccccagccccaccaggg
cccctgccaccagcccccaacagtggcactgggcccagtggtgtggctgggggtcggagg
ttggggaagtgcgaggcagcaggcgagaactctgatggtggagataacgagagccttgag
agctccagcaattccaatgagaccatcaactgcagctccggctcctcttctcgggacagt
ctaagggagcctccggctaccggcctgtgcaagcagacttaccagcgggagacaaggcat
agctgggactcgccagctttcaacaatgatgtggtccagaggcggcactaccgaatcggc
ctcaacctcttcaacaagaagccagagaagggtatccagtatctgatcgagcggggcttc
ctgtcagacacaccggtgggagtggctcacttcatcctggagcggaaaggcctcagccgg
cagatgataggggaattcctagggaaccggcagaagcagttcaacagagacgtgttggac
tgtgtggtggatgagatggacttctcctccatggatctggatgatgcgctccggaagttc
cagtcccatatccgggttcagggtgaggcccagaaagtggagcgactcatcgaagccttc
agccagcggtactgtgtctgtaacccagccctcgtgcgccagttccggaacccagacacc
atcttcatccttgcttttgccatcatcctcctcaataccgacatgtacagtcccagcgtc
aaagctgaacgaaagatgaaactagatgacttcatcaagaacctgagaggggttgacaat
ggtgaagacatcccccgagacctcctggtgggcatctaccagcgcatccaggggcgtgaa
ctgcggaccaacgatgaccatgtgtcccaggtgcaggctgtggagcgcatgattgttgga
aagaaaccagtcctgtctctccctcaccgtcgactggtttgctgctgccagctctacgag
gtgccagatccaaaccgcccccagaggctagggttgcatcagcgggaggtcttcctcttc
aatgatctccttgtggtcaccaaaattttccagaagaagaagatcttggtgacgtacagt
ttccgtcagtctttccccctcgtggaaatgcacatgcagctcttccagaattcatattac
cagtttgggatcaagttgctgtctgcagtacctggtggggagcgaaaagtcctcatcatc
ttcaatgcccccagcctccaggaccggctgcgctttacatccgacctgcgcgagtccatt
gcggaggtgcaggagatggagaaataccgtgtggagtcggagctggagaagcagaaaggt
atgatgcggcctaacgcctcacagcctggaggggccaaggactcagtgaatgggacgatg
gcccgcagtagcctggaggacacttacggggcaggcgatgggctcaaacggggcgcactc
agcagttccctgcgagacctctctgatgcagggaagcgggggcggcgtaacagcgtggga
tcgctggacagcaccatcgaagggtctgttattagcagtccacgccctcaccagaggatg
ccacctccgcccccacccccgccgccagaggagtacaagagccagaggcccgtctccaac
tcctcatccttcctgggctccctatttggaagcaagcggggcaaggggcccttccagatg
ccaccaccgccaacaggccaggcctctgcctcctcttcatctgcttcttccacgcaccac
caccaccaccaccaccatcatggccatagccacggtggcctgggggtgctgcctgatggg
cagtccaagctccaggccctgcatgcccagtattgccaaggaccgggccctgccccgcca
ccctacctcccaccccagcagccctctcttcccccacctccccagcagcccccacccttg
ccccagctgggctccattccaccgcctcccgcctcagccccacctgtggggccacatcgc
cacttccacgcccatggcccagtcccagggccccaacactataccttgggccggccaggc
agggcacccagacggggggctggaggacaccctcagtttgctccacatggccgccacccc
ctgcaccagcccacatccccactgcccctgtacagtcctgccccccagcaccctccagcc
cacaaacagggccctaagcacttcatcttcagccaccacccacagatgatgccagcagca
ggcgcggctgggggccctggatcccggccaccagggggctcctactcccacccccaccac
ccccagtcaccattgtcaccacactcacccatcccaccccacccctcctatccacccctc
cccccaccctcccctcacaccccgcactcaccccttccacccacctccccccatggcccg
ctgcacgcctctgggccccctggcacagccaacccccccagtgcaaaccccaaggccaag
ccaagccggatcagcaccgtggtctga

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (8)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   RefSeq(pep) (3)   
DNA sequence (27)   
   RefSeq(nuc) (3)   
   GenBank (12)   
   EMBL (12)   
Protein domain (3)   
   Pfam (3)   
All databases (56)   

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