KEGG   Homo sapiens (human): 23384
Entry
23384             CDS       T01001                                 
Symbol
SPECC1L, CYTSA, GBBB2, OBLFC1, TBHS, TBHS1
Name
(RefSeq) sperm antigen with calponin homology and coiled-coil domains 1 like
  KO
K23028  cytospin
Organism
hsa  Homo sapiens (human)
Disease
H00583  Opitz-GBBB syndrome
H02202  Oblique facial cleft
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    23384 (SPECC1L)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Others
     23384 (SPECC1L)
SSDB
Motif
Pfam: CH ATG17_like ATG16 Prefoldin_2 CAMSAP_CH Globin
Other DBs
NCBI-GeneID: 23384
NCBI-ProteinID: NP_056145
OMIM: 614140
HGNC: 29022
Ensembl: ENSG00000100014
UniProt: Q69YQ0 B2RMV2
Position
22:24270831..24417738
AA seq 1117 aa
MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLA
GMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESS
STRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAA
LEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVE
STLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITP
GNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSD
DALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQE
LADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVID
EDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKER
SHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSG
DKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKK
QIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKK
LQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHE
AQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPT
VKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTA
LSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEVKRDISAQEG
ASPASLMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKW
CQKKTEGYQNIDITNFSSSWNDGLAFCALLHTYLPAHIPYQELNSQDKRRNFMLAFQAAE
SVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET
NT seq 3354 nt   +upstreamnt  +downstreamnt
atgaagaaagcaagcaggagtgttggctcagtgcctaaagtgtctgcaataagtaaaacg
caaacagcagaaaaaattaaacctgaaaacagctcttcagcatctacgggaggcaaactt
gtaaaacctggaacagcagcatcattgtcaaagaccaagagcagtgatgaccttttagct
ggaatggccggaggggtaacggtgactaatggtgttaaaggaaagaaaagcacctgccca
tctgcagcaccttcagcatctgcccctgccatgaccaccgtggagaacaaatccaagatt
agcacaggcacagcttcttcaaccaagcggagcacttctacaggtaataaagaatccagt
tctactagagaaagattacgtgaacgtacccgattaaaccagagcaaaaaactaccttct
gcaggtcagggagctaatgacatggcattggccaaacgttcccgcagtcgaactgctaca
gaatgtgacgttcgtatgagcaagtctaagtcagacaatcagatcagtgacagagctgct
ttggaggccaaagtgaaggatcttctcacgctggcaaaaaccaaagacgtagaaatttta
catttgagaaatgaactgcgagacatgcgtgcccagctgggcattaatgaggatcattct
gagggtgatgaaaaatctgagaaggaaactattatggctcaccagccgactgatgtggag
tccactttattgcagttgcaggaacagaatactgccatccgtgaagaactcaaccagctg
aaaaatgaaaacagaatgttaaaggacaggttgaatgcattgggcttttccctagagcag
aggttagacaattctgaaaaactgtttggctatcagtccctgagcccagaaatcacccct
ggtaaccagagcgatggaggaggaactctgacttcttcagtggaaggctctgcccctggc
tcagtggaggatctcttgagtcaggatgaaaatacactaatggaccatcagcacagtaac
tccatggacaatttagacagtgagtgcagtgaggtctaccagcccctcacatcgagcgat
gatgcgctggatgcaccatcctcctcagagtcggaaggcatccccagcatagagcgctcc
cggaaggggagcagcgggaatgccagtgaagtgtccgtggcttgcctgactgaacggata
caccagatggaagagaaccaacacagtacaagtgaggaactccaggcaaccctgcaagag
ctagctgatttacagcagattacccaggaactgaatagtgaaaacgaaaggcttggagaa
gagaaggttattctgatggagtctttatgtcagcagagcgataagttggaacactttagt
cgacagattgaatacttccgctctcttctagatgagcatcacatttcttatgtcatagat
gaagatgtaaaaagtgggcgctatatggaattagagcaacgttacatggacctcgctgag
aatgcccgttttgaacgggagcagcttcttggtgtccagcagcatttaagcaatactttg
aaaatggcagaacaagacaataaggaagctcaagaaatgataggggcactcaaagaacgc
agtcaccatatggagcgaattattgagtctgagcagaaaggaaaagcagccttggcagcc
acgttagaggaatacaaagccacagtggccagtgaccagatagagatgaatcgcctgaag
gctcagctggagaatgaaaagcagaaagtggcagagctgtattctatccataactctgga
gacaaatctgatattcaggacctcctggagagtgtcaggctggacaaagaaaaagcagag
actttggctagtagcttgcaggaagatctggctcatacccgaaatgatgccaatcgatta
caggatgccattgctaaggtagaggatgaataccgagccttccaagaagaagctaagaaa
caaattgaagatttgaatatgacgttagaaaaattaagatcagacctggatgaaaaagaa
acagaaaggagtgacatgaaagaaaccatctttgaacttgaagatgaagtagaacaacat
cgtgctgtgaaacttcatgacaacctcattatttctgatctagagaatacagttaaaaaa
ctccaggaccaaaagcacgacatggaaagagaaataaagacactccacagaagacttcgg
gaagaatctgcggaatggcggcagtttcaggctgatctccagactgcagtagtcattgca
aatgacattaaatctgaagcccaagaggagattggtgatctaaagcgccggttacatgag
gctcaagaaaaaaatgagaaactcacaaaagaattggaggaaataaagtcacgcaagcaa
gaggaggagcgaggccgggtatacaattacatgaatgccgttgagagagatttggcagcc
ttaaggcagggaatgggactgagtagaaggtcctcgacttcctcagagccaactcctaca
gtaaaaaccctcatcaagtcctttgacagtgcatctcaagtaccaaaccctgctgcagct
gcaattcctcgaacgcccctgagcccaagtcctatgaaaacccctcctgcagcagctgtg
tcccctatgcagagacattccataagtggaccaatctcaacatccaaacccctgacagcc
ctgtcagataagagaccaaactatggggaaatccctgttcaagagcatctgttaagaaca
tcttcagccagccggcctgcttccctgccaagagtgcctgcgatggaaagtgccaagacc
ctctcagtgtctcgacgaagtagtgaagaagtgaaacgggacatttctgcacaggaggga
gcgtcgccagcctctctgatggctatgggaaccacgtctccacagctttccctgtcctct
tctccaacggcatctgtgactcccaccacccgaagccgaataagagaagaaaggaaagac
cctctctcagcattggccagagaatatggaggatcaaagaggaacgccttgctgaagtgg
tgtcagaagaaaacagaaggctatcagaatattgacattacaaacttcagcagcagctgg
aatgatgggctggccttctgtgccctcctgcatacatatctccctgcccacattccatat
caagaactgaacagccaggataagagaaggaacttcatgctggctttccaggcagctgaa
agtgtcggcatcaaatccacactggacattaatgaaatggtacggactgaacgacccgac
tggcagaacgtgatgctgtatgtgacggcgatctacaagtactttgagacctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (44)   
   RefSeq(nuc) (4)   
   GenBank (20)   
   EMBL (20)   
Protein domain (7)   
   Pfam (7)   
All databases (84)   

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