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O43299

- AP5Z1_HUMAN

UniProt

O43299 - AP5Z1_HUMAN

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Protein
AP-5 complex subunit zeta-1
Gene
AP5Z1, KIAA0415, SPG48
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to 1 Publication it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.

GO - Molecular functioni

  1. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. double-strand break repair via homologous recombination Source: UniProtKB
  3. endosomal transport Source: UniProtKB
  4. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
AP-5 complex subunit zeta-1
Alternative name(s):
Adaptor-related protein complex 5 zeta subunit
Short name:
Zeta5
Gene namesi
Name:AP5Z1
Synonyms:KIAA0415, SPG48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:22197. AP5Z1.

Subcellular locationi

Cytoplasm. Nucleus
Note: By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic (1 Publication).1 Publication

GO - Cellular componenti

  1. AP-5 adaptor complex Source: InterPro
  2. AP-type membrane coat adaptor complex Source: UniProtKB
  3. cytoplasm Source: UniProtKB
  4. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 48, autosomal recessive (SPG48) [MIM:613647]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi613647. phenotype.
Orphaneti306511. Autosomal recessive spastic paraplegia type 48.
PharmGKBiPA162392841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 807807AP-5 complex subunit zeta-1
PRO_0000261357Add
BLAST

Proteomic databases

MaxQBiO43299.
PaxDbiO43299.
PRIDEiO43299.

PTM databases

PhosphoSiteiO43299.

Expressioni

Gene expression databases

ArrayExpressiO43299.
BgeeiO43299.
CleanExiHS_KIAA0415.
GenevestigatoriO43299.

Organism-specific databases

HPAiHPA035693.

Interactioni

Subunit structurei

Probably part of the adaptor protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.

Protein-protein interaction databases

BioGridi115236. 3 interactions.
IntActiO43299. 2 interactions.
MINTiMINT-1452394.
STRINGi9606.ENSP00000297562.

Structurei

3D structure databases

ProteinModelPortaliO43299.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi579 – 5846Poly-Leu

Phylogenomic databases

eggNOGiNOG26605.
HOGENOMiHOG000113147.
HOVERGENiHBG061547.
InParanoidiO43299.
OMAiAQFFLNH.
OrthoDBiEOG70087D.
PhylomeDBiO43299.
TreeFamiTF331050.

Family and domain databases

InterProiIPR028222. AP5Z1.
[Graphical view]
PfamiPF14764. SPG48. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O43299-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MFSAGAESLL HQAREIQDEE LKKFCSRICK LLQAEDLGPD TLDSLQRLFL    50
IISATKYSRR LEKTCVDLLQ ATLGLPACPE QLQVLCAAIL REMSPSDSLS 100
LAWDHTQNSR QLSLVASVLL AQGDRNEEVR AVGQGVLRAL ESRQPEGPSL 150
RHLLPVMAKV VVLSPGTLQE DQATLLSKRL VDWLRYASLQ QGLPHSGGFF 200
STPRARQPGP VTEVDGAVAT DFFTVLSSGH RFTDDQWLNV QAFSMLRAWL 250
LHSGPEGPGT LDTDDRSEQE GSTLSVISAT SSAGRLLPPR ERLREVAFEY 300
CQRLIEQSNR RALRKGDSDL QKACLVEAVL VLDVLCRQDP SFLYRSLSCL 350
KALHGRVRGD PASVRVLLPL AHFFLSHGEA AAVDSEAVYQ HLFTRIPVEQ 400
FHSPMLAFEF IQFCRDNLHL FSGHLSTLRL SFPNLFKFLA WNSPPLTSEF 450
VALLPALVDA GTALEMLHAL LDLPCLTAVL DLQLRSAPAA SERPLWDTSL 500
RAPSCLEAFR DPQFQGLFQY LLRPKASGAT ERLAPLHQLL QPMAGCARVA 550
QCAQAVPTLL QAFFSAVTQV ADGSLINQLA LLLLGRSDSL YPAPGYAAGV 600
HSVLSSQFLA LCTLKPSLVV ELARDLLEFL GSVNGLCSRA SLVTSVVWAI 650
GEYLSVTYDR RCTVEQINKF FEALEALLFE VTQCRPSAAL PRCPPQVVTV 700
LMTTLTKLAS RSQDLIPRAS LLLSKMRTLA HSPATSSTHS EEGAEAIRTR 750
ATELLTLLKM PSVAQFVLTP STEVCSPRYH RDANTALPLA LRTVSRLVER 800
EAGLMPG 807
Length:807
Mass (Da):88,605
Last modified:November 28, 2006 - v2
Checksum:iAD02B2664838B739
GO
Isoform 2 (identifier: O43299-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     602-625: SVLSSQFLALCTLKPSLVVELARD → RPDACRPILVPL
     626-807: Missing.

Note: No experimental confirmation available.

Show »
Length:613
Mass (Da):67,454
Checksum:i05CA8723DAE26D36
GO
Isoform 3 (identifier: O43299-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-156: Missing.
     602-602: S → R
     603-807: Missing.

Note: No experimental confirmation available.

Show »
Length:446
Mass (Da):49,020
Checksum:i4B48C08285BAE35D
GO

Sequence cautioni

The sequence BAA24845.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941S → C.
Corresponds to variant rs11549839 [ dbSNP | Ensembl ].
VAR_049511

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 156156Missing in isoform 3.
VSP_021672Add
BLAST
Alternative sequencei602 – 62524SVLSS…ELARD → RPDACRPILVPL in isoform 2.
VSP_021673Add
BLAST
Alternative sequencei602 – 6021S → R in isoform 3.
VSP_021674
Alternative sequencei603 – 807205Missing in isoform 3.
VSP_021675Add
BLAST
Alternative sequencei626 – 807182Missing in isoform 2.
VSP_021676Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC092610 Genomic DNA. No translation available.
AB007875 mRNA. Translation: BAA24845.1. Different initiation.
BC008841 mRNA. Translation: AAH08841.2.
BC037399 mRNA. Translation: AAH37399.1.
CCDSiCCDS47528.1. [O43299-1]
PIRiT00054.
RefSeqiNP_055670.1. NM_014855.2. [O43299-1]
UniGeneiHs.558440.

Genome annotation databases

EnsembliENST00000348624; ENSP00000297562; ENSG00000242802. [O43299-1]
ENST00000401897; ENSP00000384980; ENSG00000242802. [O43299-2]
GeneIDi9907.
KEGGihsa:9907.
UCSCiuc003sne.3. human. [O43299-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC092610 Genomic DNA. No translation available.
AB007875 mRNA. Translation: BAA24845.1 . Different initiation.
BC008841 mRNA. Translation: AAH08841.2 .
BC037399 mRNA. Translation: AAH37399.1 .
CCDSi CCDS47528.1. [O43299-1 ]
PIRi T00054.
RefSeqi NP_055670.1. NM_014855.2. [O43299-1 ]
UniGenei Hs.558440.

3D structure databases

ProteinModelPortali O43299.
ModBasei Search...

Protein-protein interaction databases

BioGridi 115236. 3 interactions.
IntActi O43299. 2 interactions.
MINTi MINT-1452394.
STRINGi 9606.ENSP00000297562.

PTM databases

PhosphoSitei O43299.

Proteomic databases

MaxQBi O43299.
PaxDbi O43299.
PRIDEi O43299.

Protocols and materials databases

DNASUi 9907.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000348624 ; ENSP00000297562 ; ENSG00000242802 . [O43299-1 ]
ENST00000401897 ; ENSP00000384980 ; ENSG00000242802 . [O43299-2 ]
GeneIDi 9907.
KEGGi hsa:9907.
UCSCi uc003sne.3. human. [O43299-1 ]

Organism-specific databases

CTDi 9907.
GeneCardsi GC07P004816.
HGNCi HGNC:22197. AP5Z1.
HPAi HPA035693.
MIMi 613647. phenotype.
613653. gene.
neXtProti NX_O43299.
Orphaneti 306511. Autosomal recessive spastic paraplegia type 48.
PharmGKBi PA162392841.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG26605.
HOGENOMi HOG000113147.
HOVERGENi HBG061547.
InParanoidi O43299.
OMAi AQFFLNH.
OrthoDBi EOG70087D.
PhylomeDBi O43299.
TreeFami TF331050.

Miscellaneous databases

ChiTaRSi AP5Z1. human.
GenomeRNAii 9907.
NextBioi 37361.
PROi O43299.
SOURCEi Search...

Gene expression databases

ArrayExpressi O43299.
Bgeei O43299.
CleanExi HS_KIAA0415.
Genevestigatori O43299.

Family and domain databases

InterProi IPR028222. AP5Z1.
[Graphical view ]
Pfami PF14764. SPG48. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
    Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 417-807 (ISOFORM 1).
    Tissue: Brain.
  4. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH AP5S1; AP5B1; ZFYVE26 AND SPG11, INVOLVEMENT IN SPG48.
  5. Cited for: FUNCTION IN ENDOSOME TRANSPORT.

Entry informationi

Entry nameiAP5Z1_HUMAN
AccessioniPrimary (citable) accession number: O43299
Secondary accession number(s): Q8N3X2, Q96H80
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 28, 2006
Last modified: September 3, 2014
This is version 99 of the entry and version 2 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 7
    Human chromosome 7: 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

External Data

Dasty 3

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