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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: 2 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi396 – 40813A.T hook 1Add
BLAST
DNA bindingi544 – 55613A.T hook 2Add
BLAST

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
AT-hook DNA-binding motif-containing protein 1
Gene namesi
Name:AHDC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25230. AHDC1.

Pathology & Biotechi

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

MalaCardsiAHDC1.
MIMi615829. phenotype.
PharmGKBiPA142672633.

Polymorphism and mutation databases

BioMutaiAHDC1.
DMDMi74746532.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16031603AT-hook DNA-binding motif-containing protein 1PRO_0000313824Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei79 – 791N6-acetyllysineBy similarity
Modified residuei268 – 2681PhosphoserineCombined sources
Modified residuei596 – 5961PhosphoserineCombined sources
Modified residuei829 – 8291PhosphoserineCombined sources
Modified residuei846 – 8461PhosphoserineCombined sources
Modified residuei896 – 8961PhosphoserineCombined sources
Modified residuei1064 – 10641PhosphoserineCombined sources
Modified residuei1187 – 11871PhosphoserineCombined sources
Modified residuei1322 – 13221PhosphoserineBy similarity
Modified residuei1324 – 13241PhosphoserineBy similarity
Modified residuei1399 – 13991PhosphoserineCombined sources
Modified residuei1401 – 14011PhosphothreonineBy similarity
Modified residuei1403 – 14031PhosphoserineBy similarity
Modified residuei1507 – 15071PhosphoserineCombined sources
Modified residuei1549 – 15491PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ5TGY3.
MaxQBiQ5TGY3.
PaxDbiQ5TGY3.
PeptideAtlasiQ5TGY3.
PRIDEiQ5TGY3.

PTM databases

iPTMnetiQ5TGY3.
PhosphoSiteiQ5TGY3.

Expressioni

Gene expression databases

BgeeiENSG00000126705.
CleanExiHS_AHDC1.
GenevisibleiQ5TGY3. HS.

Organism-specific databases

HPAiHPA028648.
HPA028691.

Interactioni

Protein-protein interaction databases

BioGridi118093. 17 interactions.
IntActiQ5TGY3. 9 interactions.
MINTiMINT-2872144.
STRINGi9606.ENSP00000247087.

Structurei

3D structure databases

ProteinModelPortaliQ5TGY3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi25 – 453429Pro-richAdd
BLAST
Compositional biasi664 – 824161Gly-richAdd
BLAST

Sequence similaritiesi

Contains 2 A.T hook DNA-binding domains.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IHGR. Eukaryota.
ENOG4110FBK. LUCA.
GeneTreeiENSGT00390000018883.
HOGENOMiHOG000033863.
HOVERGENiHBG094919.
InParanoidiQ5TGY3.
OMAiSQCAGRC.
OrthoDBiEOG091G00VR.
PhylomeDBiQ5TGY3.
TreeFamiTF332128.

Family and domain databases

InterProiIPR032757. DUF4683.
[Graphical view]
PfamiPF15735. DUF4683. 1 hit.
[Graphical view]

Sequencei

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
Checksum:i2BAC8DC14836F493
GO

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
The sequence CAI19618 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1453 – 14531Q → H in AAB50205 (PubMed:9110174).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti935 – 9351A → T.1 Publication
Corresponds to variant rs4908364 [ dbSNP | Ensembl ].
VAR_037765

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL031729 Genomic DNA. Translation: CAI19618.1. Sequence problems.
AL031729 Genomic DNA. Translation: CAI19619.1.
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.

Genome annotation databases

EnsembliENST00000247087; ENSP00000247087; ENSG00000126705.
ENST00000374011; ENSP00000363123; ENSG00000126705.
GeneIDi27245.
KEGGihsa:27245.
UCSCiuc009vsy.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL031729 Genomic DNA. Translation: CAI19618.1. Sequence problems.
AL031729 Genomic DNA. Translation: CAI19619.1.
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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118093. 17 interactions.
IntActiQ5TGY3. 9 interactions.
MINTiMINT-2872144.
STRINGi9606.ENSP00000247087.

PTM databases

iPTMnetiQ5TGY3.
PhosphoSiteiQ5TGY3.

Polymorphism and mutation databases

BioMutaiAHDC1.
DMDMi74746532.

Proteomic databases

EPDiQ5TGY3.
MaxQBiQ5TGY3.
PaxDbiQ5TGY3.
PeptideAtlasiQ5TGY3.
PRIDEiQ5TGY3.

Protocols and materials databases

DNASUi27245.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000247087; ENSP00000247087; ENSG00000126705.
ENST00000374011; ENSP00000363123; ENSG00000126705.
GeneIDi27245.
KEGGihsa:27245.
UCSCiuc009vsy.4. human.

Organism-specific databases

CTDi27245.
GeneCardsiAHDC1.
H-InvDBHIX0000309.
HGNCiHGNC:25230. AHDC1.
HPAiHPA028648.
HPA028691.
MalaCardsiAHDC1.
MIMi615790. gene.
615829. phenotype.
neXtProtiNX_Q5TGY3.
PharmGKBiPA142672633.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHGR. Eukaryota.
ENOG4110FBK. LUCA.
GeneTreeiENSGT00390000018883.
HOGENOMiHOG000033863.
HOVERGENiHBG094919.
InParanoidiQ5TGY3.
OMAiSQCAGRC.
OrthoDBiEOG091G00VR.
PhylomeDBiQ5TGY3.
TreeFamiTF332128.

Miscellaneous databases

ChiTaRSiAHDC1. human.
GenomeRNAii27245.
PROiQ5TGY3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126705.
CleanExiHS_AHDC1.
GenevisibleiQ5TGY3. HS.

Family and domain databases

InterProiIPR032757. DUF4683.
[Graphical view]
PfamiPF15735. DUF4683. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAHDC1_HUMAN
AccessioniPrimary (citable) accession number: Q5TGY3
Secondary accession number(s): Q5TGY4
, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 21, 2004
Last modified: September 7, 2016
This is version 99 of the entry and version 1 of the sequence. [Complete history]
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.

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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.