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Q6XD76 (ASCL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 14, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Achaete-scute homolog 4

Short name=ASH-4
Short name=hASH4
Alternative name(s):
Achaete-scute-like protein 4
Class A basic helix-loop-helix protein 44
Short name=bHLHa44
Gene names
Name:ASCL4
Synonyms:BHLHA44, HASH4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length172 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Could be a transcriptional regulator involved in skin development. Ref.1

Subcellular location

Nucleus By similarity.

Tissue specificity

Expressed in skin. 7-fold higher expression in fetal skin than in adult skin. Weak expression also detected in fetal lung, aorta and brain, and in adult stomach, kidney, ovary and breast. Ref.1

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence caution

The sequence DAA01055.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription from RNA polymerase II promoter

Non-traceable author statement Ref.1. Source: UniProtKB

skin development

Non-traceable author statement Ref.1. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 172172Achaete-scute homolog 4
PRO_0000317297

Regions

Domain72 – 12453bHLH

Sequences

Sequence LengthMass (Da)Tools
Q6XD76 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 94686681C4E64FB1

FASTA17219,253
        10         20         30         40         50         60 
METRKPAERL ALPYSLRTAP LGVPGTLPGL PRRDPLRVAL RLDAACWEWA RSGCARGWQY 

        70         80         90        100        110        120 
LPVPLDSAFE PAFLRKRNER ERQRVRCVNE GYARLRDHLP RELADKRLSK VETLRAAIDY 

       130        140        150        160        170 
IKHLQELLER QAWGLEGAAG AVPQRRAECN SDGESKASSA PSPSSEPEEG GS 

« Hide

References

« Hide 'large scale' references
[1]"Hash4, a novel human achaete-scute homologue found in fetal skin."
Jonsson M., Bjoerntorp Mark E., Brantsing C., Brandner J.M., Lindahl A., Asp J.
Genomics 84:859-866(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
Tissue: Skin.
[2]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
McLellan A.S., Langlands K., Kealey T.
Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY238895 mRNA. Translation: AAP69222.1.
AC007622 Genomic DNA. No translation available.
BC128211 mRNA. Translation: AAI28212.1.
BC128212 mRNA. Translation: AAI28213.1.
BK000275 mRNA. Translation: DAA01055.1. Different initiation.
RefSeqNP_982260.2. NM_203436.2.
UniGeneHs.149910.

3D structure databases

ProteinModelPortalQ6XD76.
SMRQ6XD76. Positions 78-131.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125737. 1 interaction.
STRING9606.ENSP00000345420.

PTM databases

PhosphoSiteQ6XD76.

Polymorphism databases

DMDM74749505.

Proteomic databases

PaxDbQ6XD76.
PRIDEQ6XD76.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342331; ENSP00000345420; ENSG00000187855.
GeneID121549.
KEGGhsa:121549.
UCSCuc001tmr.3. human.

Organism-specific databases

CTD121549.
GeneCardsGC12P108168.
HGNCHGNC:24311. ASCL4.
HPAHPA036116.
MIM609155. gene.
neXtProtNX_Q6XD76.
PharmGKBPA134869300.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG309992.
HOGENOMHOG000034089.
InParanoidQ6XD76.
KOK09067.
OMATSEYQTE.
OrthoDBEOG7B5WZK.
PhylomeDBQ6XD76.
TreeFamTF322889.

Gene expression databases

BgeeQ6XD76.
CleanExHS_ASCL4.
GenevestigatorQ6XD76.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERPTHR13935. PTHR13935. 1 hit.
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi121549.
NextBio80770.
PROQ6XD76.
SOURCESearch...

Entry information

Entry nameASCL4_HUMAN
AccessionPrimary (citable) accession number: Q6XD76
Secondary accession number(s): Q7RTS2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: July 5, 2004
Last modified: May 14, 2014
This is version 83 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM