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Protein

AP-5 complex subunit zeta-1

Gene

AP5Z1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.2 Publications

GO - Biological processi

  • double-strand break repair via homologous recombination Source: UniProtKB
  • endosomal transport Source: UniProtKB
  • 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 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:22197. AP5Z1.

Subcellular locationi

GO - Cellular componenti

  • AP-5 adaptor complex Source: InterPro
  • AP-type membrane coat adaptor complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 48, autosomal recessive (SPG48)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:613647

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiAP5Z1.

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiO43299.
PaxDbiO43299.
PRIDEiO43299.

PTM databases

PhosphoSiteiO43299.

Expressioni

Gene expression databases

BgeeiO43299.
CleanExiHS_KIAA0415.
GenevisibleiO43299. HS.

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 SPG11.1 Publication

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliO43299.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

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

Phylogenomic databases

eggNOGiNOG26605.
GeneTreeiENSGT00390000017592.
HOGENOMiHOG000113147.
HOVERGENiHBG061547.
InParanoidiO43299.
KOiK19025.
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. AlignAdd to basket

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

        10         20         30         40         50
MFSAGAESLL HQAREIQDEE LKKFCSRICK LLQAEDLGPD TLDSLQRLFL
60 70 80 90 100
IISATKYSRR LEKTCVDLLQ ATLGLPACPE QLQVLCAAIL REMSPSDSLS
110 120 130 140 150
LAWDHTQNSR QLSLVASVLL AQGDRNEEVR AVGQGVLRAL ESRQPEGPSL
160 170 180 190 200
RHLLPVMAKV VVLSPGTLQE DQATLLSKRL VDWLRYASLQ QGLPHSGGFF
210 220 230 240 250
STPRARQPGP VTEVDGAVAT DFFTVLSSGH RFTDDQWLNV QAFSMLRAWL
260 270 280 290 300
LHSGPEGPGT LDTDDRSEQE GSTLSVISAT SSAGRLLPPR ERLREVAFEY
310 320 330 340 350
CQRLIEQSNR RALRKGDSDL QKACLVEAVL VLDVLCRQDP SFLYRSLSCL
360 370 380 390 400
KALHGRVRGD PASVRVLLPL AHFFLSHGEA AAVDSEAVYQ HLFTRIPVEQ
410 420 430 440 450
FHSPMLAFEF IQFCRDNLHL FSGHLSTLRL SFPNLFKFLA WNSPPLTSEF
460 470 480 490 500
VALLPALVDA GTALEMLHAL LDLPCLTAVL DLQLRSAPAA SERPLWDTSL
510 520 530 540 550
RAPSCLEAFR DPQFQGLFQY LLRPKASGAT ERLAPLHQLL QPMAGCARVA
560 570 580 590 600
QCAQAVPTLL QAFFSAVTQV ADGSLINQLA LLLLGRSDSL YPAPGYAAGV
610 620 630 640 650
HSVLSSQFLA LCTLKPSLVV ELARDLLEFL GSVNGLCSRA SLVTSVVWAI
660 670 680 690 700
GEYLSVTYDR RCTVEQINKF FEALEALLFE VTQCRPSAAL PRCPPQVVTV
710 720 730 740 750
LMTTLTKLAS RSQDLIPRAS LLLSKMRTLA HSPATSSTHS EEGAEAIRTR
760 770 780 790 800
ATELLTLLKM PSVAQFVLTP STEVCSPRYH RDANTALPLA LRTVSRLVER

EAGLMPG
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.Curated

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. 1 PublicationVSP_021672Add
BLAST
Alternative sequencei602 – 62524SVLSS…ELARD → RPDACRPILVPL in isoform 2. 1 PublicationVSP_021673Add
BLAST
Alternative sequencei602 – 6021S → R in isoform 3. 1 PublicationVSP_021674
Alternative sequencei603 – 807205Missing in isoform 3. 1 PublicationVSP_021675Add
BLAST
Alternative sequencei626 – 807182Missing in isoform 2. 1 PublicationVSP_021676Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
GeneIDi9907.
KEGGihsa:9907.
UCSCiuc003sne.3. human. [O43299-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliO43299.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiO43299.

Polymorphism and mutation databases

BioMutaiAP5Z1.

Proteomic databases

MaxQBiO43299.
PaxDbiO43299.
PRIDEiO43299.

Protocols and materials databases

DNASUi9907.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9907.
GeneCardsiGC07P004816.
HGNCiHGNC:22197. AP5Z1.
HPAiHPA035693.
MIMi613647. phenotype.
613653. gene.
neXtProtiNX_O43299.
Orphaneti306511. Autosomal recessive spastic paraplegia type 48.
PharmGKBiPA162392841.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG26605.
GeneTreeiENSGT00390000017592.
HOGENOMiHOG000113147.
HOVERGENiHBG061547.
InParanoidiO43299.
KOiK19025.
OMAiAQFFLNH.
OrthoDBiEOG70087D.
PhylomeDBiO43299.
TreeFamiTF331050.

Miscellaneous databases

ChiTaRSiAP5Z1. human.
GenomeRNAii9907.
NextBioi37361.
PROiO43299.
SOURCEiSearch...

Gene expression databases

BgeeiO43299.
CleanExiHS_KIAA0415.
GenevisibleiO43299. HS.

Family and domain databases

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

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: June 24, 2015
This is version 106 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

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 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.