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UniProtKB - Q5TGY3 (AHDC1_HUMAN)

Entry version 133 (25 May 2022)
Sequence version 1 (21 Dec 2004)
Previous versions | rss
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Protein

AT-hook DNA-binding motif-containing protein 1

Gene

AHDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi396 – 408A.T hook 1Add BLAST13
DNA bindingi544 – 556A.T hook 2Add BLAST13

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5TGY3

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q5TGY3

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
AT-hook DNA-binding motif-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AHDC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25230, AHDC1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615790, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5TGY3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000126705

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Xia-Gibbs syndrome (XIGIS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		27245

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		AHDC1

MalaCards human disease database

More...MalaCardsi		AHDC1
MIMi615829, phenotype

Open Targets

More...OpenTargetsi		ENSG00000126705

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		412069, AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672633

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5TGY3, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AHDC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74746532

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003138241 – 1603AT-hook DNA-binding motif-containing protein 1Add BLAST1603

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei79N6-acetyllysineBy similarity1
Modified residuei268PhosphoserineCombined sources1
Modified residuei596PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki609Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei829PhosphoserineCombined sources1
Modified residuei846PhosphoserineCombined sources1
Modified residuei891Omega-N-methylarginineCombined sources1
Modified residuei896PhosphoserineCombined sources1
Modified residuei1064PhosphoserineCombined sources1
Modified residuei1187PhosphoserineCombined sources1
Modified residuei1322PhosphoserineBy similarity1
Modified residuei1324PhosphoserineBy similarity1
Modified residuei1399PhosphoserineCombined sources1
Modified residuei1401PhosphothreonineBy similarity1
Modified residuei1403PhosphoserineBy similarity1
Cross-linki1409Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1507PhosphoserineCombined sources1
Modified residuei1549PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q5TGY3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5TGY3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5TGY3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5TGY3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q5TGY3

PeptideAtlas

More...PeptideAtlasi		Q5TGY3

PRoteomics IDEntifications database

More...PRIDEi		Q5TGY3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		65133

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q5TGY3, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5TGY3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q5TGY3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000126705, Expressed in cerebellar vermis and 192 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5TGY3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000126705, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		118093, 58 interactors

Protein interaction database and analysis system

More...IntActi		Q5TGY3, 24 interactors

Molecular INTeraction database

More...MINTi		Q5TGY3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000363123

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5TGY3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q5TGY3

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni19 – 108DisorderedSequence analysisAdd BLAST90
Regioni150 – 236DisorderedSequence analysisAdd BLAST87
Regioni264 – 285DisorderedSequence analysisAdd BLAST22
Regioni394 – 467DisorderedSequence analysisAdd BLAST74
Regioni581 – 607DisorderedSequence analysisAdd BLAST27
Regioni717 – 792DisorderedSequence analysisAdd BLAST76
Regioni806 – 827DisorderedSequence analysisAdd BLAST22
Regioni1159 – 1198DisorderedSequence analysisAdd BLAST40
Regioni1253 – 1286DisorderedSequence analysisAdd BLAST34
Regioni1503 – 1533DisorderedSequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi26 – 47Pro residuesSequence analysisAdd BLAST22
Compositional biasi61 – 75Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi165 – 179Polar residuesSequence analysisAdd BLAST15
Compositional biasi182 – 202Basic and acidic residuesSequence analysisAdd BLAST21
Compositional biasi424 – 448Pro residuesSequence analysisAdd BLAST25
Compositional biasi721 – 737Basic and acidic residuesSequence analysisAdd BLAST17
Compositional biasi808 – 827Polar residuesSequence analysisAdd BLAST20
Compositional biasi1159 – 1177Polar residuesSequence analysisAdd BLAST19

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSFA, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018883

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004578_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5TGY3

Identification of Orthologs from Complete Genome Data

More...OMAi		TEWAGDK

Database of Orthologous Groups

More...OrthoDBi		61471at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5TGY3

TreeFam database of animal gene trees

More...TreeFami		TF332128

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039225, AHDC1
IPR032757, DUF4683

The PANTHER Classification System

More...PANTHERi		PTHR15617, PTHR15617, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15735, DUF4683, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q5TGY3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRVKPQGLVV TSSAVCSSPD YLREPKYYPG GPPTPRPLLP TRPPASPPDK 
        60         70         80         90        100
AFSTHAFSEN PRPPPRRDPS TRRPPVLAKG DDPLPPRAAR PVSQARCPTP 
       110        120        130        140        150
VGDGSSSRRC WDNGRVNLRP VVQLIDIMKD LTRLSQDLQH SGVHLDCGGL 
       160        170        180        190        200
RLSRPPAPPP GDLQYSFFSS PSLANSIRSP EERATPHAKS ERPSHPLYEP 
       210        220        230        240        250
EPEPRDSPQP GQGHSPGATA AATGLPPEPE PDSTDYSELA DADILSELAS 
       260        270        280        290        300
LTCPEAQLLE AQALEPPSPE PEPQLLDPQP RFLDPQALEP LGEALELPPL 
       310        320        330        340        350
QPLADPLGLP GLALQALDTL PDSLESQLLD PQALDPLPKL LDVPGRRLEP 
       360        370        380        390        400
QQPLGHCPLA EPLRLDLCSP HGPPGPEGHP KYALRRTDRP KILCRRRKAG 
       410        420        430        440        450
RGRKADAGPE GRLLPLPMPT GLVAALAEPP PPPPPPPPAL PGPGPVSVPE 
       460        470        480        490        500
LKPESSQTPV VSTRKGKCRG VRRMVVKMAK IPVSLGRRNK TTYKVSSLSS 
       510        520        530        540        550
SLSVEGKELG LRVSAEPTPL LKMKNNGRNV VVVFPPGEMP IILKRKRGRP 
       560        570        580        590        600
PKNLLLGPGK PKEPAVVAAE AATVAAATMA MPEVKKRRRR KQKLASPQPS 
       610        620        630        640        650
YAADANDSKA EYSDVLAKLA FLNRQSQCAG RCSPPRCWTP SEPESVHQAP 
       660        670        680        690        700
DTQSISHFLH RVQGFRRRGG KAGGFGGRGG GHAAKSARCS FSDFFEGIGK 
       710        720        730        740        750
KKKVVAVAAA GVGGPGLTEL GHPRKRGRGE VDAVTGKPKR KRRSRKNGTL 
       760        770        780        790        800
FPEQVPSGPG FGEAGAEWAG DKGGGWAPHH GHPGGQAGRN CGFQGTEARA 
       810        820        830        840        850
FASTGLESGA SGRGSYYSTG APSGQTELSQ ERQNLFTGYF RSLLDSDDSS 
       860        870        880        890        900
DLLDFALSAS RPESRKASGT YAGPPTSALP AQRGLATFPS RGAKASPVAV 
       910        920        930        940        950
GSSGAGADPS FQPVLSARQT FPPGRAASYG LTPAASDCRA AETFPKLVPP 
       960        970        980        990       1000
PSAMARSPTT HPPANTYLPQ YGGYGAGQSV FAPTKPFTGQ DCANSKDCSF 
      1010       1020       1030       1040       1050
AYGSGNSLPA SPSSAHSAGY APPPTGGPCL PPSKASFFSS SEGAPFSGSA 
      1060       1070       1080       1090       1100
PTPLRCDSRA STVSPGGYMV PKGTTASATS AASAASSSSS SFQPSPENCR 
      1110       1120       1130       1140       1150
QFAGASQWPF RQGYGGLDWA SEAFSQLYNP SFDCHVSEPN VILDISNYTP 
      1160       1170       1180       1190       1200
QKVKQQTAVS ETFSESSSDS TQFNQPVGGG GFRRANSEAS SSEGQSSLSS 
      1210       1220       1230       1240       1250
LEKLMMDWNE ASSAPGYNWN QSVLFQSSSK PGRGRRKKVD LFEASHLGFP 
      1260       1270       1280       1290       1300
TSASAAASGY PSKRSTGPRQ PRGGRGGGAC SAKKERGGAA AKAKFIPKPQ 
      1310       1320       1330       1340       1350
PVNPLFQDSP DLGLDYYSGD SSMSPLPSQS RAFGVGERDP CDFIGPYSMN 
      1360       1370       1380       1390       1400
PSTPSDGTFG QGFHCDSPSL GAPELDGKHF PPLAHPPTVF DAGLQKAYSP 
      1410       1420       1430       1440       1450
TCSPTLGFKE ELRPPPTKLA ACEPLKHGLQ GASLGHAAAA QAHLSCRDLP 
      1460       1470       1480       1490       1500
LGQPHYDSPS CKGTAYWYPP GSAARSPPYE GKVGTGLLAD FLGRTEAACL 
      1510       1520       1530       1540       1550
SAPHLASPPA TPKADKEPLE MARPPGPPRG PAAAAAGYGC PLLSDLTLSP 
      1560       1570       1580       1590       1600
VPRDSLLPLQ DTAYRYPGFM PQAHPGLGGG PKSGFLGPMA EPHPEDTFTV 

TSL
Length:1,603
Mass (Da):168,349
Last modified:December 21, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2BAC8DC14836F493
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB50205 differs from that shown. Reason: Frameshift.Curated
The sequence BAC86163 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1453Q → H in AAB50205 (PubMed:9110174).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_037765935A → T1 PublicationCorresponds to variant dbSNP:rs4908364Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL031729 Genomic DNA No translation available.
AK125431 mRNA Translation: BAC86163.1 Different initiation.
BC002677 mRNA Translation: AAH02677.2
BC014394 mRNA Translation: AAH14394.3
U79259 mRNA Translation: AAB50205.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30652.1

NCBI Reference Sequences

More...RefSeqi		NP_001025053.1, NM_001029882.3
XP_005245905.1, XM_005245848.3
XP_005245906.1, XM_005245849.3
XP_005245907.1, XM_005245850.3
XP_005245908.1, XM_005245851.3
XP_005245909.1, XM_005245852.3
XP_011539557.1, XM_011541255.1
XP_011539558.1, XM_011541256.2
XP_011539559.1, XM_011541257.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000247087.10; ENSP00000247087.4; ENSG00000126705.15
ENST00000374011.6; ENSP00000363123.2; ENSG00000126705.15
ENST00000642245.1; ENSP00000495072.1; ENSG00000126705.15
ENST00000642416.1; ENSP00000494394.1; ENSG00000126705.15
ENST00000644989.1; ENSP00000495665.1; ENSG00000126705.15
ENST00000673934.1; ENSP00000501218.1; ENSG00000126705.15

Database of genes from NCBI RefSeq genomes

More...GeneIDi		27245

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:27245

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000673934.1; ENSP00000501218.1; NM_001371928.1; NP_001358857.1

UCSC genome browser

More...UCSCi		uc009vsy.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL031729 Genomic DNA No translation available.
AK125431 mRNA Translation: BAC86163.1 Different initiation.
BC002677 mRNA Translation: AAH02677.2
BC014394 mRNA Translation: AAH14394.3
U79259 mRNA Translation: AAB50205.1 Frameshift.
CCDSiCCDS30652.1
RefSeqiNP_001025053.1, NM_001029882.3
XP_005245905.1, XM_005245848.3
XP_005245906.1, XM_005245849.3
XP_005245907.1, XM_005245850.3
XP_005245908.1, XM_005245851.3
XP_005245909.1, XM_005245852.3
XP_011539557.1, XM_011541255.1
XP_011539558.1, XM_011541256.2
XP_011539559.1, XM_011541257.2

3D structure databases

AlphaFoldDBiQ5TGY3
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi118093, 58 interactors
IntActiQ5TGY3, 24 interactors
MINTiQ5TGY3
STRINGi9606.ENSP00000363123

PTM databases

GlyGeniQ5TGY3, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ5TGY3
PhosphoSitePlusiQ5TGY3

Genetic variation databases

BioMutaiAHDC1
DMDMi74746532

Proteomic databases

EPDiQ5TGY3
jPOSTiQ5TGY3
MassIVEiQ5TGY3
MaxQBiQ5TGY3
PaxDbiQ5TGY3
PeptideAtlasiQ5TGY3
PRIDEiQ5TGY3
ProteomicsDBi65133

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30793, 18 antibodies from 7 providers

The DNASU plasmid repository

More...DNASUi		27245

Genome annotation databases

EnsembliENST00000247087.10; ENSP00000247087.4; ENSG00000126705.15
ENST00000374011.6; ENSP00000363123.2; ENSG00000126705.15
ENST00000642245.1; ENSP00000495072.1; ENSG00000126705.15
ENST00000642416.1; ENSP00000494394.1; ENSG00000126705.15
ENST00000644989.1; ENSP00000495665.1; ENSG00000126705.15
ENST00000673934.1; ENSP00000501218.1; ENSG00000126705.15
GeneIDi27245
KEGGihsa:27245
MANE-SelectiENST00000673934.1; ENSP00000501218.1; NM_001371928.1; NP_001358857.1
UCSCiuc009vsy.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		27245
DisGeNETi27245

GeneCards: human genes, protein and diseases

More...GeneCardsi		AHDC1
GeneReviewsiAHDC1
HGNCiHGNC:25230, AHDC1
HPAiENSG00000126705, Low tissue specificity
MalaCardsiAHDC1
MIMi615790, gene
615829, phenotype
neXtProtiNX_Q5TGY3
OpenTargetsiENSG00000126705
Orphaneti412069, AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
PharmGKBiPA142672633
VEuPathDBiHostDB:ENSG00000126705

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSFA, Eukaryota
GeneTreeiENSGT00390000018883
HOGENOMiCLU_004578_0_0_1
InParanoidiQ5TGY3
OMAiTEWAGDK
OrthoDBi61471at2759
PhylomeDBiQ5TGY3
TreeFamiTF332128

Enzyme and pathway databases

PathwayCommonsiQ5TGY3
SignaLinkiQ5TGY3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		27245, 15 hits in 1078 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		AHDC1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		27245
PharosiQ5TGY3, Tdark

Protein Ontology

More...PROi		PR:Q5TGY3
RNActiQ5TGY3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000126705, Expressed in cerebellar vermis and 192 other tissues
GenevisibleiQ5TGY3, HS

Family and domain databases

InterProiView protein in InterPro
IPR039225, AHDC1
IPR032757, DUF4683
PANTHERiPTHR15617, PTHR15617, 1 hit
PfamiView protein in Pfam
PF15735, DUF4683, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAHDC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5TGY3
Secondary accession number(s): Q5TGY4
, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 21, 2004
Last modified: May 25, 2022
This is version 133 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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