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Protein

Actin-like protein 7A

Gene

ACTL7A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • structural constituent of cytoskeleton Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

SignaLinkiQ9Y615.

Names & Taxonomyi

Protein namesi
Recommended name:
Actin-like protein 7A
Alternative name(s):
Actin-like-7-alpha
Gene namesi
Name:ACTL7A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:161. ACTL7A.

Subcellular locationi

  • Cytoplasmcytoskeleton 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

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: ProtInc
  • Golgi apparatus Source: UniProtKB-SubCell
  • male germ cell nucleus Source: Ensembl
  • motile cilium Source: Ensembl
  • nucleus Source: UniProtKB
  • protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi31 – 311A → Y: Abolishes interaction with TES. 1 Publication
Mutagenesisi41 – 411A → Y: Abolishes interaction with TES. 1 Publication

Organism-specific databases

PharmGKBiPA24483.

Polymorphism and mutation databases

BioMutaiACTL7A.
DMDMi27923725.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 435435Actin-like protein 7APRO_0000089137Add
BLAST

Proteomic databases

EPDiQ9Y615.
PaxDbiQ9Y615.
PRIDEiQ9Y615.

PTM databases

PhosphoSiteiQ9Y615.

Expressioni

Tissue specificityi

Strongly expressed in testis. Also expressed in other tissues.1 Publication

Gene expression databases

BgeeiQ9Y615.
CleanExiHS_ACTL7A.
GenevisibleiQ9Y615. HS.

Organism-specific databases

HPAiHPA021624.
HPA024544.

Interactioni

Subunit structurei

Interacts (via N-terminus) with TES (via LIM domain 2). Heterodimer with TES; the heterodimer interacts with ENAH to form a heterotrimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TESQ9UGI89EBI-10825302,EBI-2561654

Protein-protein interaction databases

BioGridi116089. 1 interaction.
IntActiQ9Y615. 2 interactions.
STRINGi9606.ENSP00000334300.

Structurei

Secondary structure

1
435
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi42 – 443Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2XQNX-ray2.62A1-65[»]
ProteinModelPortaliQ9Y615.
SMRiQ9Y615. Positions 71-435.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y615.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni31 – 5121Required for interaction with TESAdd
BLAST

Sequence similaritiesi

Belongs to the actin family.Curated

Phylogenomic databases

eggNOGiKOG0676. Eukaryota.
COG5277. LUCA.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiQ9Y615.
OMAiERDTAVW.
OrthoDBiEOG7W9RTH.
PhylomeDBiQ9Y615.
TreeFamiTF354237.

Family and domain databases

InterProiIPR004000. Actin.
IPR027679. ACTL7A.
IPR031769. ACTL7A_N.
[Graphical view]
PANTHERiPTHR11937. PTHR11937. 1 hit.
PTHR11937:SF167. PTHR11937:SF167. 1 hit.
PfamiPF00022. Actin. 1 hit.
PF16840. ACTL7A_N. 1 hit.
[Graphical view]
PRINTSiPR00190. ACTIN.
SMARTiSM00268. ACTIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y615-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWAPPAAIMG DGPTKKVGNQ APLQTQALQT ASLRDGPAKR AVWVRHTSSE
60 70 80 90 100
PQEPTESKAA KERPKQEVTK AVVVDLGTGY CKCGFAGLPR PTHKISTTVG
110 120 130 140 150
KPYMETAKTG DNRKETFVGQ ELNNTNVHLK LVNPLRHGII VDWDTVQDIW
160 170 180 190 200
EYLFRQEMKI APEEHAVLVS DPPLSPHTNR EKYAEMLFEA FNTPAMHIAY
210 220 230 240 250
QSRLSMYSYG RTSGLVVEVG HGVSYVVPIY EGYPLPSITG RLDYAGSDLT
260 270 280 290 300
AYLLGLLNSA GNEFTQDQMG IVEDIKKKCC FVALDPIEEK KVPLSEHTIR
310 320 330 340 350
YVLPDGKEIQ LCQERFLCSE MFFKPSLIKS MQLGLHTQTV SCLNKCDIAL
360 370 380 390 400
KRDLMGNILL CGGSTMLSGF PNRLQKELSS MCPNDTPQVN VLPERDSAVW
410 420 430
TGGSILASLQ GFQPLWVHRF EYEEHGPFFL YRRCF
Length:435
Mass (Da):48,644
Last modified:November 1, 1999 - v1
Checksum:iFE73995971B5600C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451R → C.1 Publication
VAR_031425
Natural varianti161 – 1611A → P.
Corresponds to variant rs35995497 [ dbSNP | Ensembl ].
VAR_033460
Natural varianti340 – 3401V → M.1 Publication
Corresponds to variant rs7872077 [ dbSNP | Ensembl ].
VAR_024362
Natural varianti343 – 3431L → V.
Corresponds to variant rs56031956 [ dbSNP | Ensembl ].
VAR_060998

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS6772.1.
RefSeqiNP_006678.1. NM_006687.3.
UniGeneiHs.123530.

Genome annotation databases

EnsembliENST00000333999; ENSP00000334300; ENSG00000187003.
GeneIDi10881.
KEGGihsa:10881.
UCSCiuc004bdj.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS6772.1.
RefSeqiNP_006678.1. NM_006687.3.
UniGeneiHs.123530.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2XQNX-ray2.62A1-65[»]
ProteinModelPortaliQ9Y615.
SMRiQ9Y615. Positions 71-435.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116089. 1 interaction.
IntActiQ9Y615. 2 interactions.
STRINGi9606.ENSP00000334300.

PTM databases

PhosphoSiteiQ9Y615.

Polymorphism and mutation databases

BioMutaiACTL7A.
DMDMi27923725.

Proteomic databases

EPDiQ9Y615.
PaxDbiQ9Y615.
PRIDEiQ9Y615.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333999; ENSP00000334300; ENSG00000187003.
GeneIDi10881.
KEGGihsa:10881.
UCSCiuc004bdj.3. human.

Organism-specific databases

CTDi10881.
GeneCardsiACTL7A.
HGNCiHGNC:161. ACTL7A.
HPAiHPA021624.
HPA024544.
MIMi604303. gene.
neXtProtiNX_Q9Y615.
PharmGKBiPA24483.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0676. Eukaryota.
COG5277. LUCA.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiQ9Y615.
OMAiERDTAVW.
OrthoDBiEOG7W9RTH.
PhylomeDBiQ9Y615.
TreeFamiTF354237.

Enzyme and pathway databases

SignaLinkiQ9Y615.

Miscellaneous databases

EvolutionaryTraceiQ9Y615.
GeneWikiiACTL7A.
GenomeRNAii10881.
NextBioi41319.
PROiQ9Y615.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y615.
CleanExiHS_ACTL7A.
GenevisibleiQ9Y615. HS.

Family and domain databases

InterProiIPR004000. Actin.
IPR027679. ACTL7A.
IPR031769. ACTL7A_N.
[Graphical view]
PANTHERiPTHR11937. PTHR11937. 1 hit.
PTHR11937:SF167. PTHR11937:SF167. 1 hit.
PfamiPF00022. Actin. 1 hit.
PF16840. ACTL7A_N. 1 hit.
[Graphical view]
PRINTSiPR00190. ACTIN.
SMARTiSM00268. ACTIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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] [Europe PMC] [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] [Europe PMC] [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.

Entry informationi

Entry nameiACL7A_HUMAN
AccessioniPrimary (citable) accession number: Q9Y615
Secondary accession number(s): B2RC83, Q5JSV0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: November 1, 1999
Last modified: May 11, 2016
This is version 121 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.