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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 ‘Function’ 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

<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

<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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000126705.13

Human Gene Nomenclature Database

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HGNCi
HGNC:25230 AHDC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615790 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5TGY3

<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

Mental retardation, autosomal dominant 25 (MRD25)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD25 additional features include mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination.
See also OMIM:615829

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
27245

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

Polymorphism and mutation 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.<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_processing_section">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

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 human proteome resource

More...
ProteomicsDBi
65133

PTM databases

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 176 organ(s), highest expression level in paraflocculus

CleanEx database of gene expression profiles

More...
CleanExi
HS_AHDC1

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5TGY3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028648
HPA028691

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
118093, 24 interactors

Protein interaction database and analysis system

More...
IntActi
Q5TGY3, 15 interactors

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5TGY3

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5TGY3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi25 – 453Pro-richAdd BLAST429
Compositional biasi664 – 824Gly-richAdd BLAST161

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHGR Eukaryota
ENOG4110FBK LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018883

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000033863

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG094919

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5TGY3

KEGG Orthology (KO)

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KOi
K22592

Identification of Orthologs from Complete Genome Data

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OMAi
NTYPPQY

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00VR

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 at position 1331.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

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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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.469280

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000247087; ENSP00000247087; ENSG00000126705
ENST00000374011; ENSP00000363123; ENSG00000126705
ENST00000642245; ENSP00000495072; ENSG00000126705
ENST00000642416; ENSP00000494394; ENSG00000126705
ENST00000644989; ENSP00000495665; ENSG00000126705

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
27245

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:27245

UCSC genome browser

More...
UCSCi
uc009vsy.4 human

Keywords - Coding sequence diversityi

Polymorphism

<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
UniGeneiHs.469280

3D structure databases

ProteinModelPortaliQ5TGY3
SMRiQ5TGY3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118093, 24 interactors
IntActiQ5TGY3, 15 interactors

PTM databases

iPTMnetiQ5TGY3
PhosphoSitePlusiQ5TGY3

Polymorphism and mutation databases

BioMutaiAHDC1
DMDMi74746532

Proteomic databases

EPDiQ5TGY3
MaxQBiQ5TGY3
PaxDbiQ5TGY3
PeptideAtlasiQ5TGY3
PRIDEiQ5TGY3
ProteomicsDBi65133

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
27245
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000247087; ENSP00000247087; ENSG00000126705
ENST00000374011; ENSP00000363123; ENSG00000126705
ENST00000642245; ENSP00000495072; ENSG00000126705
ENST00000642416; ENSP00000494394; ENSG00000126705
ENST00000644989; ENSP00000495665; ENSG00000126705
GeneIDi27245
KEGGihsa:27245
UCSCiuc009vsy.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
27245
DisGeNETi27245
EuPathDBiHostDB:ENSG00000126705.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AHDC1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0000309
HGNCiHGNC:25230 AHDC1
HPAiHPA028648
HPA028691
MalaCardsiAHDC1
MIMi615790 gene
615829 phenotype
neXtProtiNX_Q5TGY3
OpenTargetsiENSG00000126705
Orphaneti412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
PharmGKBiPA142672633

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHGR Eukaryota
ENOG4110FBK LUCA
GeneTreeiENSGT00390000018883
HOGENOMiHOG000033863
HOVERGENiHBG094919
InParanoidiQ5TGY3
KOiK22592
OMAiNTYPPQY
OrthoDBiEOG091G00VR
PhylomeDBiQ5TGY3
TreeFamiTF332128

Miscellaneous databases

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

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ChiTaRSi
AHDC1 human

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

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GenomeRNAii
27245

Protein Ontology

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PROi
PR:Q5TGY3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000126705 Expressed in 176 organ(s), highest expression level in paraflocculus
CleanExiHS_AHDC1
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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_and_isoforms">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: December 5, 2018
This is version 113 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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