Seroatlas · Human Serome Atlas

AHDC1

Transcription factor Gibbin

Also known as: AHDC1_HUMAN, DJ159A19.3, RP1-159A19.1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5TGY3
Gene: AHDC1
Ensembl: ENSG00000126705
Chromosome: 1
Canonical length: 1603 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

1603 residues, UniProt reviewed canonical sequence.

>Q5TGY3|AHDC1
     1  MRVKPQGLVV TSSAVCSSPD YLREPKYYPG GPPTPRPLLP TRPPASPPDK AFSTHAFSEN
    61  PRPPPRRDPS TRRPPVLAKG DDPLPPRAAR PVSQARCPTP VGDGSSSRRC WDNGRVNLRP
   121  VVQLIDIMKD LTRLSQDLQH SGVHLDCGGL RLSRPPAPPP GDLQYSFFSS PSLANSIRSP
   181  EERATPHAKS ERPSHPLYEP EPEPRDSPQP GQGHSPGATA AATGLPPEPE PDSTDYSELA
   241  DADILSELAS LTCPEAQLLE AQALEPPSPE PEPQLLDPQP RFLDPQALEP LGEALELPPL
   301  QPLADPLGLP GLALQALDTL PDSLESQLLD PQALDPLPKL LDVPGRRLEP QQPLGHCPLA
   361  EPLRLDLCSP HGPPGPEGHP KYALRRTDRP KILCRRRKAG RGRKADAGPE GRLLPLPMPT
   421  GLVAALAEPP PPPPPPPPAL PGPGPVSVPE LKPESSQTPV VSTRKGKCRG VRRMVVKMAK
   481  IPVSLGRRNK TTYKVSSLSS SLSVEGKELG LRVSAEPTPL LKMKNNGRNV VVVFPPGEMP
   541  IILKRKRGRP PKNLLLGPGK PKEPAVVAAE AATVAAATMA MPEVKKRRRR KQKLASPQPS
   601  YAADANDSKA EYSDVLAKLA FLNRQSQCAG RCSPPRCWTP SEPESVHQAP DTQSISHFLH
   661  RVQGFRRRGG KAGGFGGRGG GHAAKSARCS FSDFFEGIGK KKKVVAVAAA GVGGPGLTEL
   721  GHPRKRGRGE VDAVTGKPKR KRRSRKNGTL FPEQVPSGPG FGEAGAEWAG DKGGGWAPHH
   781  GHPGGQAGRN CGFQGTEARA FASTGLESGA SGRGSYYSTG APSGQTELSQ ERQNLFTGYF
   841  RSLLDSDDSS DLLDFALSAS RPESRKASGT YAGPPTSALP AQRGLATFPS RGAKASPVAV
   901  GSSGAGADPS FQPVLSARQT FPPGRAASYG LTPAASDCRA AETFPKLVPP PSAMARSPTT
   961  HPPANTYLPQ YGGYGAGQSV FAPTKPFTGQ DCANSKDCSF AYGSGNSLPA SPSSAHSAGY
  1021  APPPTGGPCL PPSKASFFSS SEGAPFSGSA PTPLRCDSRA STVSPGGYMV PKGTTASATS
  1081  AASAASSSSS SFQPSPENCR QFAGASQWPF RQGYGGLDWA SEAFSQLYNP SFDCHVSEPN
  1141  VILDISNYTP QKVKQQTAVS ETFSESSSDS TQFNQPVGGG GFRRANSEAS SSEGQSSLSS
  1201  LEKLMMDWNE ASSAPGYNWN QSVLFQSSSK PGRGRRKKVD LFEASHLGFP TSASAAASGY
  1261  PSKRSTGPRQ PRGGRGGGAC SAKKERGGAA AKAKFIPKPQ PVNPLFQDSP DLGLDYYSGD
  1321  SSMSPLPSQS RAFGVGERDP CDFIGPYSMN PSTPSDGTFG QGFHCDSPSL GAPELDGKHF
  1381  PPLAHPPTVF DAGLQKAYSP TCSPTLGFKE ELRPPPTKLA ACEPLKHGLQ GASLGHAAAA
  1441  QAHLSCRDLP LGQPHYDSPS CKGTAYWYPP GSAARSPPYE GKVGTGLLAD FLGRTEAACL
  1501  SAPHLASPPA TPKADKEPLE MARPPGPPRG PAAAAAGYGC PLLSDLTLSP VPRDSLLPLQ
  1561  DTAYRYPGFM PQAHPGLGGG PKSGFLGPMA EPHPEDTFTV TSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AHDC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.69
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

esophagus: 34 nTPM
cerebellum: 32 nTPM
skin: 30 nTPM
skeletal muscle: 29 nTPM
blood vessel: 28 nTPM
endometrium: 26 nTPM

Single-cell type

esophageal apical cells: 162 nCPM
esophageal suprabasal cells: 131 nCPM
myonuclei: 127 nCPM
adrenal cortex cells: 117 nCPM
podocytes: 116 nCPM
suprabasal keratinocytes: 91 nCPM

Immune cell

NK-cell: 0.2 nTPM
plasmacytoid DC: 0.2 nTPM
basophil: 0.1 nTPM
gdT-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM

Brain region

cerebellum: 60 nTPM
amygdala: 56 nTPM
midbrain: 55 nTPM
hypothalamus: 53 nTPM
basal ganglia: 53 nTPM
cerebral cortex: 52 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AHDC1.

Disease | AllUniProt

Conditions AHDC1 is implicated in, by any mechanism.

Xia-Gibbs syndrome (XIGIS) MIM:615829

Disease | GeneticClinVar

183 pathogenic / likely-pathogenic of 1,474 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Intellectual disability
Inborn genetic diseases
Sleep apnea
Delayed speech and language development

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.08
gnomAD pLI: 1
gnomAD missense Z: 2.86
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AHDC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CBX1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AHDC1 as an antibody target. Whether an autoantibody or antibody against AHDC1 could matter depends on whether native AHDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AHDC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AHDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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