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O43299 (AP5Z1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
AP-5 complex subunit zeta-1
Alternative name(s):
Adapter-related protein complex 5 zeta subunit
Short name=Zeta5
Gene names
Name:AP5Z1
Synonyms:KIAA0415, SPG48
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length807 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport. According to Ref.4 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. Ref.4 Ref.5

Subunit structure

Probably part of the adapter protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11. Ref.4

Subcellular location

Cytoplasm. Nucleus. Note: By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic (Ref.4). Ref.4

Involvement in disease

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. Ref.4

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43299-1)

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.
Isoform 2 (identifier: O43299-2)

The sequence of this isoform differs from the canonical sequence as follows:
     602-625: SVLSSQFLALCTLKPSLVVELARD → RPDACRPILVPL
     626-807: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: O43299-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 807807AP-5 complex subunit zeta-1
PRO_0000261357

Regions

Compositional bias579 – 5846Poly-Leu

Natural variations

Alternative sequence1 – 156156Missing in isoform 3.
VSP_021672
Alternative sequence602 – 62524SVLSS…ELARD → RPDACRPILVPL in isoform 2.
VSP_021673
Alternative sequence6021S → R in isoform 3.
VSP_021674
Alternative sequence603 – 807205Missing in isoform 3.
VSP_021675
Alternative sequence626 – 807182Missing in isoform 2.
VSP_021676
Natural variant941S → C.
Corresponds to variant rs11549839 [ dbSNP | Ensembl ].
VAR_049511

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2006. Version 2.
Checksum: AD02B2664838B739

FASTA80788,605
        10         20         30         40         50         60 
MFSAGAESLL HQAREIQDEE LKKFCSRICK LLQAEDLGPD TLDSLQRLFL IISATKYSRR 

        70         80         90        100        110        120 
LEKTCVDLLQ ATLGLPACPE QLQVLCAAIL REMSPSDSLS LAWDHTQNSR QLSLVASVLL 

       130        140        150        160        170        180 
AQGDRNEEVR AVGQGVLRAL ESRQPEGPSL RHLLPVMAKV VVLSPGTLQE DQATLLSKRL 

       190        200        210        220        230        240 
VDWLRYASLQ QGLPHSGGFF STPRARQPGP VTEVDGAVAT DFFTVLSSGH RFTDDQWLNV 

       250        260        270        280        290        300 
QAFSMLRAWL LHSGPEGPGT LDTDDRSEQE GSTLSVISAT SSAGRLLPPR ERLREVAFEY 

       310        320        330        340        350        360 
CQRLIEQSNR RALRKGDSDL QKACLVEAVL VLDVLCRQDP SFLYRSLSCL KALHGRVRGD 

       370        380        390        400        410        420 
PASVRVLLPL AHFFLSHGEA AAVDSEAVYQ HLFTRIPVEQ FHSPMLAFEF IQFCRDNLHL 

       430        440        450        460        470        480 
FSGHLSTLRL SFPNLFKFLA WNSPPLTSEF VALLPALVDA GTALEMLHAL LDLPCLTAVL 

       490        500        510        520        530        540 
DLQLRSAPAA SERPLWDTSL RAPSCLEAFR DPQFQGLFQY LLRPKASGAT ERLAPLHQLL 

       550        560        570        580        590        600 
QPMAGCARVA QCAQAVPTLL QAFFSAVTQV ADGSLINQLA LLLLGRSDSL YPAPGYAAGV 

       610        620        630        640        650        660 
HSVLSSQFLA LCTLKPSLVV ELARDLLEFL GSVNGLCSRA SLVTSVVWAI GEYLSVTYDR 

       670        680        690        700        710        720 
RCTVEQINKF FEALEALLFE VTQCRPSAAL PRCPPQVVTV LMTTLTKLAS RSQDLIPRAS 

       730        740        750        760        770        780 
LLLSKMRTLA HSPATSSTHS EEGAEAIRTR ATELLTLLKM PSVAQFVLTP STEVCSPRYH 

       790        800 
RDANTALPLA LRTVSRLVER EAGLMPG 

« Hide

Isoform 2 [UniParc].

Checksum: 05CA8723DAE26D36
Show »

FASTA61367,454
Isoform 3 [UniParc].

Checksum: 4B48C08285BAE35D
Show »

FASTA44649,020

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia."
Slabicki M., Theis M., Krastev D.B., Samsonov S., Mundwiller E., Junqueira M., Paszkowski-Rogacz M., Teyra J., Heninger A.K., Poser I., Prieur F., Truchetto J., Confavreux C., Marelli C., Durr A., Camdessanche J.P., Brice A., Shevchenko A. expand/collapse author list , Pisabarro M.T., Stevanin G., Buchholz F.
PLoS Biol. 8:E1000408-E1000408(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH AP5S1; AP5B1; ZFYVE26 AND SPG11, INVOLVEMENT IN SPG48.
[5]"The fifth adaptor protein complex."
Hirst J., Barlow L.D., Francisco G.C., Sahlender D.A., Seaman M.N., Dacks J.B., Robinson M.S.
PLoS Biol. 9:E1001170-E1001170(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN ENDOSOME TRANSPORT.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC092610 Genomic DNA. No translation available.
AB007875 mRNA. Translation: BAA24845.1. Different initiation.
BC008841 mRNA. Translation: AAH08841.2.
BC037399 mRNA. Translation: AAH37399.1.
PIRT00054.
RefSeqNP_055670.1. NM_014855.2.
UniGeneHs.558440.

3D structure databases

ProteinModelPortalO43299.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115236. 3 interactions.
IntActO43299. 2 interactions.
MINTMINT-1452394.
STRING9606.ENSP00000297562.

PTM databases

PhosphoSiteO43299.

Proteomic databases

PaxDbO43299.
PRIDEO43299.

Protocols and materials databases

DNASU9907.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000348624; ENSP00000297562; ENSG00000242802. [O43299-1]
ENST00000401897; ENSP00000384980; ENSG00000242802. [O43299-2]
GeneID9907.
KEGGhsa:9907.
UCSCuc003sne.3. human. [O43299-1]

Organism-specific databases

CTD9907.
GeneCardsGC07P004816.
HGNCHGNC:22197. AP5Z1.
HPAHPA035693.
MIM613647. phenotype.
613653. gene.
neXtProtNX_O43299.
Orphanet306511. Autosomal recessive spastic paraplegia type 48.
PharmGKBPA162392841.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG26605.
HOGENOMHOG000113147.
HOVERGENHBG061547.
InParanoidO43299.
OMAAQFFLNH.
OrthoDBEOG70087D.
PhylomeDBO43299.
TreeFamTF331050.

Gene expression databases

ArrayExpressO43299.
BgeeO43299.
CleanExHS_KIAA0415.
GenevestigatorO43299.

Family and domain databases

InterProIPR028222. AP5Z1.
[Graphical view]
PfamPF14764. SPG48. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAP5Z1. human.
GenomeRNAi9907.
NextBio37361.
PROO43299.
SOURCESearch...

Entry information

Entry nameAP5Z1_HUMAN
AccessionPrimary (citable) accession number: O43299
Secondary accession number(s): Q8N3X2, Q96H80
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 28, 2006
Last modified: April 16, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM