Skip Header

 
Contribute Send feedback

Reviewed, UniProtKB/Swiss-Prot Q9Y615 (ACL7A_HUMAN)

Last modified July 22, 2008. Version 57. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein namesRecommended name:
    Actin-like protein 7A
Alternative name(s):
    Actin-like-7-alpha
Gene names
Name: ACTL7A
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length435 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

Hide | Top

General annotation (Comments)

Subcellular location

Cytoplasm › cytoskeletonBy similarity.

Tissue specificity

Strongly expressed in testis. Also expressed in other tissues.

Sequence similarities

Belongs to the actin family.

Hide | Top

Ontologies

Keywords

   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityPolymorphism
   Molecular functionStructural protein

Gene Ontology (GO)

   Cellular componentcytoskeleton Ref.1

Traceable author statement. Source: ProtInc

   Molecular functionstructural constituent of cytoskeleton Ref.1

Traceable author statement. Source: ProtInc

Complete GO annotation...

Hide | Top

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical view

Molecule processing

Chain1 – 435435Actin-like protein 7A

Natural variations

Natural variant451R → C
Natural variant1611A → P: dbSNP rs35995497.
Natural variant3401V → M: dbSNP rs7872077.

Hide | Top

Sequences

Sequence LengthMass (Da)Tools
Q9Y615-1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: FE73995971B5600C

FASTA43548,644
        10         20         30         40         50         60 
MWAPPAAIMG DGPTKKVGNQ APLQTQALQT ASLRDGPAKR AVWVRHTSSE PQEPTESKAA 

        70         80         90        100        110        120 
KERPKQEVTK AVVVDLGTGY CKCGFAGLPR PTHKISTTVG KPYMETAKTG DNRKETFVGQ 

       130        140        150        160        170        180 
ELNNTNVHLK LVNPLRHGII VDWDTVQDIW EYLFRQEMKI APEEHAVLVS DPPLSPHTNR 

       190        200        210        220        230        240 
EKYAEMLFEA FNTPAMHIAY QSRLSMYSYG RTSGLVVEVG HGVSYVVPIY EGYPLPSITG 

       250        260        270        280        290        300 
RLDYAGSDLT AYLLGLLNSA GNEFTQDQMG IVEDIKKKCC FVALDPIEEK KVPLSEHTIR 

       310        320        330        340        350        360 
YVLPDGKEIQ LCQERFLCSE MFFKPSLIKS MQLGLHTQTV SCLNKCDIAL KRDLMGNILL 

       370        380        390        400        410        420 
CGGSTMLSGF PNRLQKELSS MCPNDTPQVN VLPERDSAVW TGGSILASLQ GFQPLWVHRF 

       430 
EYEEHGPFFL YRRCF

« Hide

Hide | Top

References

« Hide 'large scale' references
[1]"Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31."
Chadwick B.P., Mull J., Helbling L.A., Gill S., Leyne M., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A., Axelrod F.B., Brownstein M., Gusella J.F., Slaugenhaupt S.A.
Genomics 58:302-309(1999) [PubMed: 10373328] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
[2]"Single nucleotide polymorphisms: discovery of the genetic causes of male infertility."
Tanaka H., Hirose M., Tokuhiro K., Matsuoka Y., Miyagawa Y., Tsujimura A., Okuyama A., Nishimune Y.
Soc. Reprod. Fertil. Suppl. 65:531-534(2007) [PubMed: 17644991] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-45 AND MET-340.
Tissue: Blood.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed: 15164053] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.

Hide | Top

Cross-references

Sequence databases

AF113526 Genomic DNA. Translation: AAD44109.1.
AB284520 Genomic DNA. Translation: BAF41971.1.
AL359692 Genomic DNA. Translation: CAI40571.1.
BC014610 mRNA. Translation: AAH14610.1.
RefSeqNP_006678.1.
UniGeneHs.123530

3D structure databases

HSSPHSSP built from PDB template 2BTF based on UniProtKB P02570.
ModBaseSearch...

PTM databases

PhosphoSiteQ9Y615.

Genome annotation databases

EnsemblENSG00000187003. Homo sapiens. [Contig view]
GeneID10881.
KEGGhsa:10881.

Organism-specific databases

HGNCHGNC:161. ACTL7A.
MIM604303. gene.
PharmGKBPA24483.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ9Y615.
HOVERGENQ9Y615.

Gene expression databases

ArrayExpressQ9Y615.
CleanExHS_ACTL7A.
GermOnlineENSG00000187003. Homo sapiens.

Family and domain databases

InterProIPR004000. Actin_like.
[Graphical view]
PANTHERPTHR11937. Actin_like. 1 hit.
PfamPF00022. Actin. 1 hit.
[Graphical view]
PRINTSPR00190. ACTIN.
SMARTSM00268. ACTIN. 1 hit.
[Graphical view]
ProDomQ9Y615.
[Graphical view] [Entries sharing at least one domain]
BLOCKSSearch...

Other Resources

SOURCESearch...
ProtoNetSearch...

Hide | Top

Entry information

Entry nameACL7A_HUMAN
AccessionPrimary (citable) accession number: Q9Y615
Secondary accession number(s): Q5JSV0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: November 1, 1999
Last modified: July 22, 2008
This is version 57 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents