Gene: HAND1

Basic information

Tag Content
Uniprot ID A0A452DNX2
Entrez ID 102172808
Genbank protein ID
Genbank nucleotide ID XM_005683211.3
Ensembl protein ID ENSCHIP00000001461
Ensembl nucleotide ID ENSCHIG00000002958
Gene name BHLH domain-containing protein
Gene symbol HAND1
Organism Capra hircus
NCBI taxa ID 9925
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MNLVGSYAHH HHHHHHHHHP HPAHPMLHEP FLFGPASRCH QERPYFQSWL LSPADAAPDF 60
PAGGPPPAAA AAAASYGPDA RPSQSPGRLE ALGGRLGRRK GSGPKKERRR TESINSAFAE 120
LRECIPNVPA DTKLSKIKTL RLATSYIAYL MDVLAKDAQA GDPEAFKAEL KKADGGRESK 180
RKRELQQHEG FPPALGPGEK RIKGRTGWPQ QVWALELNQ 219

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologHAND1517952Q0VCE2Bos taurusPredictionMore>>
1:1 orthologHAND1489164E2RPA0Canis lupus familiarisPredictionMore>>
1:1 orthologHAND1102172808A0A452DNX2Capra hircusPredictionMore>>
1:1 orthologHAND19421O96004Homo sapiensPredictionMore>>
1:1 orthologHand115110Q64279CPOMus musculusPublicationMore>>
1:1 orthologHAND1462209H2QRV2Pan troglodytesPredictionMore>>
1:1 orthologHAND1A0A287ACN5Sus scrofaPredictionMore>>
1:1 orthologHAND1100009575G1T0L8Oryctolagus cuniculusPredictionMore>>
1:1 orthologHand159112P97832Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005737 cytoplasm
GO:0005730 nucleolus
GO:0005654 nucleoplasm
GO:0090575 RNA polymerase II transcription factor complex
GO:0043425 bHLH transcription factor binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0019899 enzyme binding
GO:0042803 protein homodimerization activity
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0001525 angiogenesis
GO:0003218 cardiac left ventricle formation
GO:0003219 cardiac right ventricle formation
GO:0060411 cardiac septum morphogenesis
GO:0060536 cartilage morphogenesis
GO:0003144 embryonic heart tube formation
GO:0001947 heart looping
GO:0060485 mesenchyme development
GO:0001707 mesoderm formation
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:1903026 negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding
GO:0042475 odontogenesis of dentin-containing tooth
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0006366 transcription by RNA polymerase II
GO:0001829 trophectodermal cell differentiation
GO:0060707 trophoblast giant cell differentiation
GO:0055010 ventricular cardiac muscle tissue morphogenesis

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS50888 BHLH

Pfam

Pfam ID Pfam Term
PF00010 HLH