Q9Y615 (ACL7A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Actin-like protein 7A

Alternative name(s):
Actin-like-7-alpha

Gene names

Name:

ACTL7A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	435 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts (via N-terminus) with TES (via LIM domain 2). Heterodimer with TES; the heterodimer interacts with ENAH to form a heterotrimer. Ref.7
Subcellular location	Cytoplasm › cytoskeleton By similarity. Golgi apparatus By similarity. Cytoplasm By similarity. Nucleus By similarity. Note: Detected at the Golgi apparatus during acrosome biogenesis. Detected at the subacrosomal layer in round spermatids. Detected in sperm head and tail By similarity.
Tissue specificity	Strongly expressed in testis. Also expressed in other tissues. Ref.1
Sequence similarities	Belongs to the actin family.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton Golgi apparatus Nucleus
Coding sequence diversity	Polymorphism
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell cytoskeleton Traceable author statement. Source: ProtInc protein complex Inferred from direct assay Ref.7. Source: UniProtKB
Molecular function	structural constituent of cytoskeleton Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 435

435

Actin-like protein 7A

PRO_0000089137

Regions

Region

31 – 51

21

Required for interaction with TES

Natural variations

Natural variant

45

1

R → C. Ref.2

VAR_031425

Natural variant

161

1

A → P.
Corresponds to variant rs35995497 [ dbSNP | Ensembl ].

VAR_033460

Natural variant

340

1

V → M. Ref.2
Corresponds to variant rs7872077 [ dbSNP | Ensembl ].

VAR_024362

Natural variant

343

1

L → V.
Corresponds to variant rs56031956 [ dbSNP | Ensembl ].

VAR_060998

Experimental info

Mutagenesis

31

1

A → Y: Abolishes interaction with TES. Ref.7

Mutagenesis

41

1

A → Y: Abolishes interaction with TES. Ref.7

Secondary structure

1

.

.

.

435

Helix Strand Turn

Details...

Beta strand

42 – 44

3

Sequences

	Sequence		Length	Mass (Da)
	Q9Y615 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: FE73995971B5600C	FASTA	435	48,644
	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

References

	« Hide 'large scale' referencesShow '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]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[4]	"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. , 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].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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.
[7]	"Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A." Boeda B., Knowles P.P., Briggs D.C., Murray-Rust J., Soriano E., Garvalov B.K., McDonald N.Q., Way M. J. Biol. Chem. 286:11543-11554(2011) [PubMed: 21278383] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.62 ANGSTROMS) OF 1-65 IN COMPLEX WITH ENAH AND TES, SUBUNIT, MUTAGENESIS OF ALA-31 AND ALA-41.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF113526 Genomic DNA. Translation: AAD44109.1.
AB284520 Genomic DNA. Translation: BAF41971.1.
AK314981 mRNA. Translation: BAG37480.1.
AL359692 Genomic DNA. Translation: CAI40571.1.
CH471105 Genomic DNA. Translation: EAW59026.1.
BC014610 mRNA. Translation: AAH14610.1.

IPI

IPI00164012.

RefSeq

NP_006678.1. NM_006687.2.

UniGene

Hs.123530.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2XQN	X-ray	2.62	A	1-65	[»]

ProteinModelPortal

Q9Y615.

SMR

Q9Y615. Positions 69-435.

ModBase

Search...

Protein-protein interaction databases

STRING

Q9Y615.

PTM databases

PhosphoSite

Q9Y615.

Polymorphism databases

DMDM

27923725.

Proteomic databases

PRIDE

Q9Y615.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000333999; ENSP00000334300; ENSG00000187003.

GeneID

10881.

KEGG

hsa:10881.

UCSC

uc004bdj.1. human.

Organism-specific databases

CTD

10881.

GeneCards

GC09P111624.

H-InvDB

HIX0008264.

HGNC

HGNC:161. ACTL7A.

HPA

HPA021624.
HPA024544.

MIM

604303. gene.

neXtProt

NX_Q9Y615.

PharmGKB

PA24483.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG16924.

GeneTree

ENSGT00560000076554.

HOGENOM

HBG559892.

HOVERGEN

HBG003771.

InParanoid

Q9Y615.

OMA

GHGVSYV.

OrthoDB

EOG4DBTDP.

PhylomeDB

Q9Y615.

Gene expression databases

ArrayExpress

Q9Y615.

Bgee

Q9Y615.

CleanEx

HS_ACTL7A.

Genevestigator

Q9Y615.

GermOnline

ENSG00000187003. Homo sapiens.

Family and domain databases

InterPro

IPR004000. Actin-like.
[Graphical view]

PANTHER

PTHR11937. Actin_like. 1 hit.

Pfam

PF00022. Actin. 1 hit.
[Graphical view]

PRINTS

PR00190. ACTIN.

SMART

SM00268. ACTIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

41319.

SOURCE

Search...

Entry information

Entry name

ACL7A_HUMAN

Accession

Primary (citable) accession number: Q9Y615
Secondary accession number(s): B2RC83, Q5JSV0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 27, 2003
Last sequence update:	November 1, 1999
Last modified:	January 25, 2012
This is version 86 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.