Q6XD76 (ASCL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	172 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation 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-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 172	172	Achaete-scute homolog 4		PRO_0000317297
Regions
	Domain	72 – 124	53	bHLH

Sequences

	Sequence		Length	Mass (Da)
	Q6XD76 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 94686681C4E64FB1	FASTA	172	19,253
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00069167.
RefSeq	NP_982260.2. NM_203436.2.
UniGene	Hs.149910.
3D structure databases
ProteinModelPortal	Q6XD76.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000345420.
PTM databases
PhosphoSite	Q6XD76.
Polymorphism databases
DMDM	74749505.
Proteomic databases
PaxDb	Q6XD76.
PRIDE	Q6XD76.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342331; ENSP00000345420; ENSG00000187855.
GeneID	121549.
KEGG	hsa:121549.
UCSC	uc001tmr.3. human.
Organism-specific databases
CTD	121549.
GeneCards	GC12P108168.
HGNC	HGNC:24311. ASCL4.
HPA	HPA036116.
MIM	609155. gene.
neXtProt	NX_Q6XD76.
PharmGKB	PA134869300.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG309992.
HOGENOM	HOG000034089.
InParanoid	Q6XD76.
KO	K09067.
OMA	APSPCSE.
OrthoDB	EOG4SJ5G9.
Gene expression databases
Bgee	Q6XD76.
CleanEx	HS_ASCL4.
Genevestigator	Q6XD76.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR015660. ASH. IPR011598. bHLH_dom. [Graphical view]
PANTHER	PTHR13935. PTHR13935. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	121549.
NextBio	80770.
SOURCE	Search...

Entry information

Entry name

ASCL4_HUMAN

Accession

Primary (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 1, 2013
This is version 76 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.