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Protein

AP-4 complex subunit sigma-1

Gene

AP4S1

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

Functioni

Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.

GO - Molecular functioni

  • protein transporter activity Source: InterPro
  • transporter activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
AP-4 complex subunit sigma-1
Alternative name(s):
AP-4 adaptor complex subunit sigma-1
Adaptor-related protein complex 4 subunit sigma-1
Sigma-1 subunit of AP-4
Sigma-4-adaptin
Short name:
Sigma4-adaptin
Gene namesi
Name:AP4S1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:575. AP4S1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Coated pit, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Cerebral palsy, spastic quadriplegic 6 (CPSQ6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development.
See also OMIM:614067

Organism-specific databases

MalaCardsiAP4S1.
MIMi614067. phenotype.
Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBiPA24867.

Polymorphism and mutation databases

BioMutaiAP4S1.
DMDMi13431288.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 144144AP-4 complex subunit sigma-1PRO_0000193820Add
BLAST

Proteomic databases

EPDiQ9Y587.
MaxQBiQ9Y587.
PaxDbiQ9Y587.
PRIDEiQ9Y587.

PTM databases

PhosphoSiteiQ9Y587.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiQ9Y587.
CleanExiHS_AP4S1.
ExpressionAtlasiQ9Y587. baseline and differential.
GenevisibleiQ9Y587. HS.

Organism-specific databases

HPAiHPA039963.

Interactioni

Subunit structurei

Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunitAP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1).

Protein-protein interaction databases

BioGridi116325. 21 interactions.
IntActiQ9Y587. 19 interactions.
STRINGi9606.ENSP00000216366.

Structurei

3D structure databases

ProteinModelPortaliQ9Y587.
SMRiQ9Y587. Positions 1-141.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0934. Eukaryota.
COG5030. LUCA.
GeneTreeiENSGT00530000062839.
HOGENOMiHOG000185227.
HOVERGENiHBG050517.
InParanoidiQ9Y587.
KOiK12403.
OMAiENEMAVY.
PhylomeDBiQ9Y587.
TreeFamiTF331913.

Family and domain databases

InterProiIPR016635. AP_complex_ssu.
IPR022775. AP_mu_sigma_su.
IPR011012. Longin-like_dom.
[Graphical view]
PANTHERiPTHR11753. PTHR11753. 1 hit.
PfamiPF01217. Clat_adaptor_s. 1 hit.
[Graphical view]
PIRSFiPIRSF015588. AP_complex_sigma. 1 hit.
SUPFAMiSSF64356. SSF64356. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y587-1) [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
MIKFFLMVNK QGQTRLSKYY EHVDINKRTL LETEVIKSCL SRSNEQCSFI
60 70 80 90 100
EYKDFKLIYR QYAALFIVVG VNDTENEMAI YEFIHNFVEV LDEYFSRVSE
110 120 130 140
LDIMFNLDKV HIILDEMVLN GCIVETNRAR ILAPLLILDK MSES
Length:144
Mass (Da):17,005
Last modified:November 1, 1999 - v1
Checksum:i0B620AFBB3B7F8A1
GO
Isoform 2 (identifier: Q9Y587-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-144: IMFNLDKVHI...LLILDKMSES → VSFFNTVFHS...KGAASTTPIY

Show »
Length:159
Mass (Da):18,564
Checksum:iCE14C1B5B2AA1F15
GO
Isoform 3 (identifier: Q9Y587-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-144: SELDIMFNLD...LLILDKMSES → EPIDELPKIC...KGAASTTPIY

Note: No experimental confirmation available.
Show »
Length:135
Mass (Da):15,737
Checksum:iFE2434EE46F3A6B7
GO
Isoform 4 (identifier: Q9Y587-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-144: IMFNLDKVHI...LLILDKMSES → VSFFNTVFHS...SLHPGSPGLK

Show »
Length:149
Mass (Da):17,384
Checksum:iECE74B200A98A1AE
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei99 – 14446SELDI…KMSES → EPIDELPKICSALEPQQTCF SPDSSSFKGAASTTPIY in isoform 3. 1 PublicationVSP_046364Add
BLAST
Alternative sequencei103 – 14442IMFNL…KMSES → VSFFNTVFHSTWQMHSGPYQ EPIDELPKICSALEPQQTCF SPDSSSFKGAASTTPIY in isoform 2. 2 PublicationsVSP_040023Add
BLAST
Alternative sequencei103 – 14442IMFNL…KMSES → VSFFNTVFHSTWQMHSGPYQ TRSCSVTQAGVQRCDHGSLH PGSPGLK in isoform 4. 1 PublicationVSP_046941Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155159 mRNA. Translation: AAD43329.1.
AB030654 mRNA. Translation: BAA82970.1.
BX247969 mRNA. Translation: CAD62307.1.
BX388185 mRNA. No translation available.
BT006701 mRNA. Translation: AAP35347.1.
CR457100 mRNA. Translation: CAG33381.1.
AK304115 mRNA. Translation: BAG65016.1.
AL049830 Genomic DNA. No translation available.
AL121808 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65953.1.
CH471078 Genomic DNA. Translation: EAW65954.1.
CH471078 Genomic DNA. Translation: EAW65955.1.
BC001259 mRNA. Translation: AAH01259.1.
CCDSiCCDS45093.1. [Q9Y587-1]
CCDS58309.1. [Q9Y587-4]
CCDS58310.1. [Q9Y587-3]
CCDS9642.1. [Q9Y587-2]
RefSeqiNP_001121598.1. NM_001128126.2. [Q9Y587-1]
NP_001241655.1. NM_001254726.1. [Q9Y587-3]
NP_001241656.1. NM_001254727.1. [Q9Y587-4]
NP_001241657.1. NM_001254728.1. [Q9Y587-1]
NP_001241658.1. NM_001254729.1. [Q9Y587-1]
NP_009008.2. NM_007077.4. [Q9Y587-2]
XP_005267350.1. XM_005267293.3. [Q9Y587-2]
XP_011534673.1. XM_011536371.1. [Q9Y587-2]
XP_011534674.1. XM_011536372.1. [Q9Y587-2]
UniGeneiHs.293411.

Genome annotation databases

EnsembliENST00000216366; ENSP00000216366; ENSG00000100478. [Q9Y587-2]
ENST00000313566; ENSP00000322508; ENSG00000100478. [Q9Y587-4]
ENST00000334725; ENSP00000334484; ENSG00000100478. [Q9Y587-4]
ENST00000542754; ENSP00000438170; ENSG00000100478. [Q9Y587-1]
ENST00000554345; ENSP00000450768; ENSG00000100478. [Q9Y587-3]
ENST00000616371; ENSP00000477631; ENSG00000100478. [Q9Y587-1]
ENST00000622409; ENSP00000482876; ENSG00000100478. [Q9Y587-1]
GeneIDi11154.
KEGGihsa:11154.
UCSCiuc001wqw.5. human. [Q9Y587-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155159 mRNA. Translation: AAD43329.1.
AB030654 mRNA. Translation: BAA82970.1.
BX247969 mRNA. Translation: CAD62307.1.
BX388185 mRNA. No translation available.
BT006701 mRNA. Translation: AAP35347.1.
CR457100 mRNA. Translation: CAG33381.1.
AK304115 mRNA. Translation: BAG65016.1.
AL049830 Genomic DNA. No translation available.
AL121808 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65953.1.
CH471078 Genomic DNA. Translation: EAW65954.1.
CH471078 Genomic DNA. Translation: EAW65955.1.
BC001259 mRNA. Translation: AAH01259.1.
CCDSiCCDS45093.1. [Q9Y587-1]
CCDS58309.1. [Q9Y587-4]
CCDS58310.1. [Q9Y587-3]
CCDS9642.1. [Q9Y587-2]
RefSeqiNP_001121598.1. NM_001128126.2. [Q9Y587-1]
NP_001241655.1. NM_001254726.1. [Q9Y587-3]
NP_001241656.1. NM_001254727.1. [Q9Y587-4]
NP_001241657.1. NM_001254728.1. [Q9Y587-1]
NP_001241658.1. NM_001254729.1. [Q9Y587-1]
NP_009008.2. NM_007077.4. [Q9Y587-2]
XP_005267350.1. XM_005267293.3. [Q9Y587-2]
XP_011534673.1. XM_011536371.1. [Q9Y587-2]
XP_011534674.1. XM_011536372.1. [Q9Y587-2]
UniGeneiHs.293411.

3D structure databases

ProteinModelPortaliQ9Y587.
SMRiQ9Y587. Positions 1-141.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116325. 21 interactions.
IntActiQ9Y587. 19 interactions.
STRINGi9606.ENSP00000216366.

PTM databases

PhosphoSiteiQ9Y587.

Polymorphism and mutation databases

BioMutaiAP4S1.
DMDMi13431288.

Proteomic databases

EPDiQ9Y587.
MaxQBiQ9Y587.
PaxDbiQ9Y587.
PRIDEiQ9Y587.

Protocols and materials databases

DNASUi11154.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216366; ENSP00000216366; ENSG00000100478. [Q9Y587-2]
ENST00000313566; ENSP00000322508; ENSG00000100478. [Q9Y587-4]
ENST00000334725; ENSP00000334484; ENSG00000100478. [Q9Y587-4]
ENST00000542754; ENSP00000438170; ENSG00000100478. [Q9Y587-1]
ENST00000554345; ENSP00000450768; ENSG00000100478. [Q9Y587-3]
ENST00000616371; ENSP00000477631; ENSG00000100478. [Q9Y587-1]
ENST00000622409; ENSP00000482876; ENSG00000100478. [Q9Y587-1]
GeneIDi11154.
KEGGihsa:11154.
UCSCiuc001wqw.5. human. [Q9Y587-1]

Organism-specific databases

CTDi11154.
GeneCardsiAP4S1.
HGNCiHGNC:575. AP4S1.
HPAiHPA039963.
MalaCardsiAP4S1.
MIMi607243. gene.
614067. phenotype.
neXtProtiNX_Q9Y587.
Orphaneti280763. Severe intellectual disability and progressive spastic paraplegia.
PharmGKBiPA24867.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0934. Eukaryota.
COG5030. LUCA.
GeneTreeiENSGT00530000062839.
HOGENOMiHOG000185227.
HOVERGENiHBG050517.
InParanoidiQ9Y587.
KOiK12403.
OMAiENEMAVY.
PhylomeDBiQ9Y587.
TreeFamiTF331913.

Enzyme and pathway databases

ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.

Miscellaneous databases

ChiTaRSiAP4S1. human.
GeneWikiiAP4S1.
GenomeRNAii11154.
NextBioi42409.
PROiQ9Y587.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y587.
CleanExiHS_AP4S1.
ExpressionAtlasiQ9Y587. baseline and differential.
GenevisibleiQ9Y587. HS.

Family and domain databases

InterProiIPR016635. AP_complex_ssu.
IPR022775. AP_mu_sigma_su.
IPR011012. Longin-like_dom.
[Graphical view]
PANTHERiPTHR11753. PTHR11753. 1 hit.
PfamiPF01217. Clat_adaptor_s. 1 hit.
[Graphical view]
PIRSFiPIRSF015588. AP_complex_sigma. 1 hit.
SUPFAMiSSF64356. SSF64356. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of a fourth adaptor-related protein complex."
    Hirst J., Bright N.A., Rous B., Robinson M.S.
    Mol. Biol. Cell 10:2787-2802(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Placenta.
  2. "Identification and characterization of epsilon-adaptin that constitutes AP-4 clathrin adaptor-related complex."
    Takatsu H., Sakurai M., Shiba Y., Yoshida Y., Nakayama K.
    Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
    Tissue: B-cell and Fetal brain.
  4. "Cloning of human full-length CDSs in BD Creator(TM) System Donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "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] (ISOFORM 1).
    Tissue: Trachea.
  7. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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 2).
    Tissue: Placenta.
  10. "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature."
    Abou Jamra R., Philippe O., Raas-Rothschild A., Eck S.H., Graf E., Buchert R., Borck G., Ekici A., Brockschmidt F.F., Nothen M.M., Munnich A., Strom T.M., Reis A., Colleaux L.
    Am. J. Hum. Genet. 88:788-795(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CPSQ6.

Entry informationi

Entry nameiAP4S1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y587
Secondary accession number(s): G3V2N8
, Q6IAQ4, Q86U36, Q9BVE7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1999
Last modified: April 13, 2016
This is version 128 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.