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Q6XD76

- ASCL4_HUMAN

UniProt

Q6XD76 - ASCL4_HUMAN

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Protein

Achaete-scute homolog 4

Gene
ASCL4, BHLHA44, HASH4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  2. skin development Source: UniProtKB
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
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 namesi
Name:ASCL4
Synonyms:BHLHA44, HASH4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:24311. ASCL4.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134869300.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 172172Achaete-scute homolog 4PRO_0000317297Add
BLAST

Proteomic databases

PaxDbiQ6XD76.
PRIDEiQ6XD76.

PTM databases

PhosphoSiteiQ6XD76.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiQ6XD76.
CleanExiHS_ASCL4.
GenevestigatoriQ6XD76.

Organism-specific databases

HPAiHPA036116.

Interactioni

Protein-protein interaction databases

BioGridi125737. 1 interaction.
STRINGi9606.ENSP00000345420.

Structurei

3D structure databases

ProteinModelPortaliQ6XD76.
SMRiQ6XD76. Positions 78-131.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini72 – 12453bHLHAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG309992.
HOGENOMiHOG000034089.
InParanoidiQ6XD76.
KOiK09067.
OMAiTSEYQTE.
OrthoDBiEOG7B5WZK.
PhylomeDBiQ6XD76.
TreeFamiTF322889.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR13935. PTHR13935. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6XD76-1 [UniParc]FASTAAdd to Basket

« Hide

METRKPAERL ALPYSLRTAP LGVPGTLPGL PRRDPLRVAL RLDAACWEWA    50
RSGCARGWQY LPVPLDSAFE PAFLRKRNER ERQRVRCVNE GYARLRDHLP 100
RELADKRLSK VETLRAAIDY IKHLQELLER QAWGLEGAAG AVPQRRAECN 150
SDGESKASSA PSPSSEPEEG GS 172
Length:172
Mass (Da):19,253
Last modified:July 5, 2004 - v1
Checksum:i94686681C4E64FB1
GO

Sequence cautioni

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

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
RefSeqiNP_982260.2. NM_203436.2.
UniGeneiHs.149910.

Genome annotation databases

EnsembliENST00000342331; ENSP00000345420; ENSG00000187855.
GeneIDi121549.
KEGGihsa:121549.
UCSCiuc001tmr.3. human.

Polymorphism databases

DMDMi74749505.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
RefSeqi NP_982260.2. NM_203436.2.
UniGenei Hs.149910.

3D structure databases

ProteinModelPortali Q6XD76.
SMRi Q6XD76. Positions 78-131.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125737. 1 interaction.
STRINGi 9606.ENSP00000345420.

PTM databases

PhosphoSitei Q6XD76.

Polymorphism databases

DMDMi 74749505.

Proteomic databases

PaxDbi Q6XD76.
PRIDEi Q6XD76.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342331 ; ENSP00000345420 ; ENSG00000187855 .
GeneIDi 121549.
KEGGi hsa:121549.
UCSCi uc001tmr.3. human.

Organism-specific databases

CTDi 121549.
GeneCardsi GC12P108168.
HGNCi HGNC:24311. ASCL4.
HPAi HPA036116.
MIMi 609155. gene.
neXtProti NX_Q6XD76.
PharmGKBi PA134869300.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309992.
HOGENOMi HOG000034089.
InParanoidi Q6XD76.
KOi K09067.
OMAi TSEYQTE.
OrthoDBi EOG7B5WZK.
PhylomeDBi Q6XD76.
TreeFami TF322889.

Miscellaneous databases

GenomeRNAii 121549.
NextBioi 80770.
PROi Q6XD76.
SOURCEi Search...

Gene expression databases

Bgeei Q6XD76.
CleanExi HS_ASCL4.
Genevestigatori Q6XD76.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view ]
PANTHERi PTHR13935. PTHR13935. 1 hit.
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiASCL4_HUMAN
AccessioniPrimary (citable) accession number: Q6XD76
Secondary accession number(s): Q7RTS2
Entry historyi
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 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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