AHDC1
entrez
27245
canonical
uniprot
Q5TGY3
canonical
ensembl
ENSG00000126705
resolver
ensp
ENSP00000247087
resolver
ensp
ENSP00000363123
resolver
ensp
ENSP00000494394
resolver
ensp
ENSP00000495072
resolver
ensp
ENSP00000495665
resolver
ensp
ENSP00000501218
resolver
ensp
ENSP00000538978
resolver
ensp
ENSP00000538979
resolver
ensp
ENSP00000538980
resolver
ensp
ENSP00000538981
resolver
ensp
ENSP00000601398
resolver
ensp
ENSP00000601399
resolver
ensp
ENSP00000601400
resolver
ensp
ENSP00000624296
resolver
enst
ENST00000247087
resolver
enst
ENST00000374011
resolver
enst
ENST00000642245
resolver
enst
ENST00000642416
resolver
enst
ENST00000644989
resolver
enst
ENST00000673934
resolver
enst
ENST00000868919
resolver
enst
ENST00000868920
resolver
enst
ENST00000868921
resolver
enst
ENST00000868922
resolver
enst
ENST00000931339
resolver
enst
ENST00000931340
resolver
enst
ENST00000931341
resolver
enst
ENST00000954237
resolver
genesymbol
AHDC1
resolver
hgnc
HGNC:25230
resolver
uniprot
Q5TGY4
resolver
uniprot
Q6PJK1
resolver
uniprot
Q6ZUQ6
resolver
uniprot
Q99769
resolver
uniprot
Q9NUF5
resolver
uniprot_entry
AHDC1_HUMAN
resolver
uniprot_sec
Q5TGY4
resolver
uniprot_sec
Q6PJK1
resolver
uniprot_sec
Q6ZUQ6
resolver
uniprot_sec
Q99769
resolver
uniprot_sec
Q9NUF5
resolver
amino_acid_sequence
MRVKPQGLVVTSSAVCSSPDYLREPKYYPGGPPTPRPLLPTRPPASPPDKAFSTHAFSENPRPPPRRDPSTRRPPVLAKGDDPLPPRAARPVSQARCPTPVGDGSSSRRCWDNGRVNLRPVVQLIDIMKDLTRLSQDLQHSGVHLDCGGLRLSRPPAPPPGDLQYSFFSSPSLANSIRSPEERATPHAKSERPSHPLYEPEPEPRDSPQPGQGHSPGATAAATGLPPEPEPDSTDYSELADADILSELASLTCPEAQLLEAQALEPPSPEPEPQLLDPQPRFLDPQALEPLGEALELPPLQPLADPLGLPGLALQALDTLPDSLESQLLDPQALDPLPKLLDVPGRRLEPQQPLGHCPLAEPLRLDLCSPHGPPGPEGHPKYALRRTDRPKILCRRRKAGRGRKADAGPEGRLLPLPMPTGLVAALAEPPPPPPPPPPALPGPGPVSVPELKPESSQTPVVSTRKGKCRGVRRMVVKMAKIPVSLGRRNKTTYKVSSLSSSLSVEGKELGLRVSAEPTPLLKMKNNGRNVVVVFPPGEMPIILKRKRGRPPKNLLLGPGKPKEPAVVAAEAATVAAATMAMPEVKKRRRRKQKLASPQPSYAADANDSKAEYSDVLAKLAFLNRQSQCAGRCSPPRCWTPSEPESVHQAPDTQSISHFLHRVQGFRRRGGKAGGFGGRGGGHAAKSARCSFSDFFEGIGKKKKVVAVAAAGVGGPGLTELGHPRKRGRGEVDAVTGKPKRKRRSRKNGTLFPEQVPSGPGFGEAGAEWAGDKGGGWAPHHGHPGGQAGRNCGFQGTEARAFASTGLESGASGRGSYYSTGAPSGQTELSQERQNLFTGYFRSLLDSDDSSDLLDFALSASRPESRKASGTYAGPPTSALPAQRGLATFPSRGAKASPVAVGSSGAGADPSFQPVLSARQTFPPGRAASYGLTPAASDCRAAETFPKLVPPPSAMARSPTTHPPANTYLPQYGGYGAGQSVFAPTKPFTGQDCANSKDCSFAYGSGNSLPASPSSAHSAGYAPPPTGGPCLPPSKASFFSSSEGAPFSGSAPTPLRCDSRASTVSPGGYMVPKGTTASATSAASAASSSSSSFQPSPENCRQFAGASQWPFRQGYGGLDWASEAFSQLYNPSFDCHVSEPNVILDISNYTPQKVKQQTAVSETFSESSSDSTQFNQPVGGGGFRRANSEASSSEGQSSLSSLEKLMMDWNEASSAPGYNWNQSVLFQSSSKPGRGRRKKVDLFEASHLGFPTSASAAASGYPSKRSTGPRQPRGGRGGGACSAKKERGGAAAKAKFIPKPQPVNPLFQDSPDLGLDYYSGDSSMSPLPSQSRAFGVGERDPCDFIGPYSMNPSTPSDGTFGQGFHCDSPSLGAPELDGKHFPPLAHPPTVFDAGLQKAYSPTCSPTLGFKEELRPPPTKLAACEPLKHGLQGASLGHAAAAQAHLSCRDLPLGQPHYDSPSCKGTAYWYPPGSAARSPPYEGKVGTGLLADFLGRTEAACLSAPHLASPPATPKADKEPLEMARPPGPPRGPAAAAAGYGCPLLSDLTLSPVPRDSLLPLQDTAYRYPGFMPQAHPGLGGGPKSGFLGPMAEPHPEDTFTVTSL
uniprot
proteins
disease_involvement
DISEASE: Xia-Gibbs syndrome (XIGIS) [MIM:615829]: An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination. {ECO:0000269|PubMed:24791903, ECO:0000269|PubMed:27148574, ECO:0000269|PubMed:29230160, ECO:0000269|PubMed:29696776, ECO:0000269|PubMed:30152016, ECO:0000269|PubMed:30622101, ECO:0000269|PubMed:30729726, ECO:0000269|PubMed:30858058, ECO:0000269|PubMed:31182893, ECO:0000269|PubMed:32256298, ECO:0000269|PubMed:33644933, ECO:0000269|PubMed:34229113, ECO:0000269|PubMed:34950897}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (PubMed:35585237). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (PubMed:35585237). {ECO:0000269|PubMed:35585237}.
uniprot
proteins
mass_dalton
168349
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24791903
uniprot
proteins
pubmed
27148574
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29230160
uniprot
proteins
pubmed
29696776
uniprot
proteins
pubmed
30152016
uniprot
proteins
pubmed
30622101
uniprot
proteins
pubmed
30729726
uniprot
proteins
pubmed
30858058
uniprot
proteins
pubmed
31182893
uniprot
proteins
pubmed
32256298
uniprot
proteins
pubmed
33644933
uniprot
proteins
pubmed
34229113
uniprot
proteins
pubmed
34950897
uniprot
proteins
pubmed
35585237
uniprot
proteins
pubmed
9110174
uniprot
proteins
sequence_length
1603
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:33644933}. Chromosome {ECO:0000269|PubMed:35585237}. Note=Associates with promoter and enhancer regions. {ECO:0000269|PubMed:35585237}.
uniprot
proteins