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UniProtKB - Q5TGY3 (AHDC1_HUMAN)
Protein
AT-hook DNA-binding motif-containing protein 1
Gene
AHDC1
Organism
Homo sapiens (Human)
Status
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 396 – 408 | A.T hook 1Add BLAST | 13 | |
DNA bindingi | 544 – 556 | A.T hook 2Add BLAST | 13 |
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
Keywordsi
Molecular function | DNA-binding |
Enzyme and pathway databases
PathwayCommonsi | Q5TGY3 |
SignaLinki | Q5TGY3 |
Names & Taxonomyi
Protein namesi | Recommended name: AT-hook DNA-binding motif-containing protein 1 |
Gene namesi | Name:AHDC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25230, AHDC1 |
MIMi | 615790, gene |
neXtProti | NX_Q5TGY3 |
VEuPathDBi | HostDB:ENSG00000126705 |
Pathology & Biotechi
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 OMIMKeywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 27245 |
GeneReviewsi | AHDC1 |
MalaCardsi | AHDC1 |
MIMi | 615829, phenotype |
OpenTargetsi | ENSG00000126705 |
Orphaneti | 412069, AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
PharmGKBi | PA142672633 |
Miscellaneous databases
Pharosi | Q5TGY3, Tdark |
Genetic variation databases
BioMutai | AHDC1 |
DMDMi | 74746532 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000313824 | 1 – 1603 | AT-hook DNA-binding motif-containing protein 1Add BLAST | 1603 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 79 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 268 | PhosphoserineCombined sources | 1 | |
Modified residuei | 596 | PhosphoserineCombined sources | 1 | |
Cross-linki | 609 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 829 | PhosphoserineCombined sources | 1 | |
Modified residuei | 846 | PhosphoserineCombined sources | 1 | |
Modified residuei | 891 | Omega-N-methylarginineCombined sources | 1 | |
Modified residuei | 896 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1064 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1187 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1322 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1324 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1399 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1401 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 1403 | PhosphoserineBy similarity | 1 | |
Cross-linki | 1409 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 1507 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1549 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q5TGY3 |
jPOSTi | Q5TGY3 |
MassIVEi | Q5TGY3 |
MaxQBi | Q5TGY3 |
PaxDbi | Q5TGY3 |
PeptideAtlasi | Q5TGY3 |
PRIDEi | Q5TGY3 |
ProteomicsDBi | 65133 |
PTM databases
GlyGeni | Q5TGY3, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q5TGY3 |
PhosphoSitePlusi | Q5TGY3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000126705, Expressed in cerebellar vermis and 192 other tissues |
Genevisiblei | Q5TGY3, HS |
Organism-specific databases
HPAi | ENSG00000126705, Low tissue specificity |
Interactioni
Binary interactionsi
Protein-protein interaction databases
BioGRIDi | 118093, 58 interactors |
IntActi | Q5TGY3, 24 interactors |
MINTi | Q5TGY3 |
STRINGi | 9606.ENSP00000363123 |
Miscellaneous databases
RNActi | Q5TGY3, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q5TGY3 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 19 – 108 | DisorderedSequence analysisAdd BLAST | 90 | |
Regioni | 150 – 236 | DisorderedSequence analysisAdd BLAST | 87 | |
Regioni | 264 – 285 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 394 – 467 | DisorderedSequence analysisAdd BLAST | 74 | |
Regioni | 581 – 607 | DisorderedSequence analysisAdd BLAST | 27 | |
Regioni | 717 – 792 | DisorderedSequence analysisAdd BLAST | 76 | |
Regioni | 806 – 827 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 1159 – 1198 | DisorderedSequence analysisAdd BLAST | 40 | |
Regioni | 1253 – 1286 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 1503 – 1533 | DisorderedSequence analysisAdd BLAST | 31 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 26 – 47 | Pro residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 61 – 75 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 165 – 179 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 182 – 202 | Basic and acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 424 – 448 | Pro residuesSequence analysisAdd BLAST | 25 | |
Compositional biasi | 721 – 737 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 808 – 827 | Polar residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 1159 – 1177 | Polar residuesSequence analysisAdd BLAST | 19 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502QSFA, Eukaryota |
GeneTreei | ENSGT00390000018883 |
HOGENOMi | CLU_004578_0_0_1 |
InParanoidi | Q5TGY3 |
OMAi | TEWAGDK |
OrthoDBi | 61471at2759 |
PhylomeDBi | Q5TGY3 |
TreeFami | TF332128 |
Family and domain databases
InterProi | View protein in InterPro IPR039225, AHDC1 IPR032757, DUF4683 |
PANTHERi | PTHR15617, PTHR15617, 1 hit |
Pfami | View protein in Pfam PF15735, DUF4683, 1 hit |
i Sequence
Sequence statusi: Complete.
Q5TGY3-1 [UniParc]FASTAAdd to basket
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
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1453 | Q → H in AAB50205 (PubMed:9110174).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037765 | 935 | A → T1 PublicationCorresponds to variant dbSNP:rs4908364Ensembl. | 1 |
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. |
CCDSi | CCDS30652.1 |
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
Similar proteinsi
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. |
CCDSi | CCDS30652.1 |
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 |
3D structure databases
AlphaFoldDBi | Q5TGY3 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 118093, 58 interactors |
IntActi | Q5TGY3, 24 interactors |
MINTi | Q5TGY3 |
STRINGi | 9606.ENSP00000363123 |
PTM databases
GlyGeni | Q5TGY3, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q5TGY3 |
PhosphoSitePlusi | Q5TGY3 |
Genetic variation databases
BioMutai | AHDC1 |
DMDMi | 74746532 |
Proteomic databases
EPDi | Q5TGY3 |
jPOSTi | Q5TGY3 |
MassIVEi | Q5TGY3 |
MaxQBi | Q5TGY3 |
PaxDbi | Q5TGY3 |
PeptideAtlasi | Q5TGY3 |
PRIDEi | Q5TGY3 |
ProteomicsDBi | 65133 |
Protocols and materials databases
Antibodypediai | 30793, 18 antibodies from 7 providers |
DNASUi | 27245 |
Genome annotation databases
Organism-specific databases
CTDi | 27245 |
DisGeNETi | 27245 |
GeneCardsi | AHDC1 |
GeneReviewsi | AHDC1 |
HGNCi | HGNC:25230, AHDC1 |
HPAi | ENSG00000126705, Low tissue specificity |
MalaCardsi | AHDC1 |
MIMi | 615790, gene 615829, phenotype |
neXtProti | NX_Q5TGY3 |
OpenTargetsi | ENSG00000126705 |
Orphaneti | 412069, AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
PharmGKBi | PA142672633 |
VEuPathDBi | HostDB:ENSG00000126705 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSFA, Eukaryota |
GeneTreei | ENSGT00390000018883 |
HOGENOMi | CLU_004578_0_0_1 |
InParanoidi | Q5TGY3 |
OMAi | TEWAGDK |
OrthoDBi | 61471at2759 |
PhylomeDBi | Q5TGY3 |
TreeFami | TF332128 |
Enzyme and pathway databases
PathwayCommonsi | Q5TGY3 |
SignaLinki | Q5TGY3 |
Miscellaneous databases
BioGRID-ORCSi | 27245, 15 hits in 1078 CRISPR screens |
ChiTaRSi | AHDC1, human |
GenomeRNAii | 27245 |
Pharosi | Q5TGY3, Tdark |
PROi | PR:Q5TGY3 |
RNActi | Q5TGY3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000126705, Expressed in cerebellar vermis and 192 other tissues |
Genevisiblei | Q5TGY3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039225, AHDC1 IPR032757, DUF4683 |
PANTHERi | PTHR15617, PTHR15617, 1 hit |
Pfami | View protein in Pfam PF15735, DUF4683, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | AHDC1_HUMAN | |
Accessioni | Q5TGY3Primary (citable) accession number: Q5TGY3 Secondary accession number(s): Q5TGY4 Q9NUF5 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot