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Q8N4B1

- SESQ1_HUMAN

UniProt

Q8N4B1 - SESQ1_HUMAN

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Protein

Sesquipedalian-1

Gene

FAM109A

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

Functioni

Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.1 Publication

GO - Molecular functioni

  1. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. endosome organization Source: UniProtKB
  2. receptor recycling Source: UniProtKB
  3. retrograde transport, endosome to Golgi Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Sesquipedalian-1
Short name:
Ses1
Alternative name(s):
27 kDa inositol polyphosphate phosphatase-interacting protein A
Short name:
IPIP27A
Gene namesi
Name:FAM109A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:26509. FAM109A.

Subcellular locationi

Early endosome. Recycling endosome. Golgi apparatustrans-Golgi network. Cytoplasmic vesicleclathrin-coated vesicle
Note: Interaction with OCRL may be crucial for targeting to endosome and to the trans-Golgi network. Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes.

GO - Cellular componenti

  1. clathrin-coated vesicle Source: UniProtKB
  2. early endosome Source: UniProtKB
  3. recycling endosome Source: UniProtKB
  4. trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Endosome, Golgi apparatus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi224 – 2241F → A: Loss of OCRL-binding. Drastically reduces membrane targeting. 2 Publications
Mutagenesisi228 – 2281H → A: Loss of OCRL-binding. 2 Publications
Mutagenesisi234 – 2352EI → AA: Loss of OCRL-binding. 1 Publication

Organism-specific databases

PharmGKBiPA143485466.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 249249Sesquipedalian-1PRO_0000254572Add
BLAST

Proteomic databases

MaxQBiQ8N4B1.
PaxDbiQ8N4B1.
PRIDEiQ8N4B1.

PTM databases

PhosphoSiteiQ8N4B1.

Expressioni

Gene expression databases

BgeeiQ8N4B1.
CleanExiHS_FAM109A.
ExpressionAtlasiQ8N4B1. baseline and differential.
GenevestigatoriQ8N4B1.

Interactioni

Subunit structurei

Forms homodimers and heterodimers with FAM109B. Interacts with OCRL and INPP5B.3 Publications

Protein-protein interaction databases

BioGridi126873. 3 interactions.
IntActiQ8N4B1. 1 interaction.
MINTiMINT-6778621.
STRINGi9606.ENSP00000354461.

Structurei

Secondary structure

1
249
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi224 – 2318Combined sources
Turni232 – 2343Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3QISX-ray2.30B223-235[»]
ProteinModelPortaliQ8N4B1.
SMRiQ8N4B1. Positions 19-112.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini17 – 11397PHPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi223 – 23513F&HAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi139 – 22385Pro-richAdd
BLAST

Domaini

The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.1 Publication

Sequence similaritiesi

Belongs to the sesquipedalian family.Curated
Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG117159.
GeneTreeiENSGT00440000034671.
HOVERGENiHBG061708.
InParanoidiQ8N4B1.
OMAiTRARTYV.
OrthoDBiEOG7966HQ.
PhylomeDBiQ8N4B1.
TreeFamiTF326731.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR001849. PH_domain.
IPR011993. PH_like_dom.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N4B1-1) [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
MKLNERSLAF YATCDAPVDN AGFLYKKGGR HAAYHRRWFV LRGNMLFYFE
60 70 80 90 100
DAASREPVGV IILEGCTVEL VEAAEEFAFA VRFAGTRART YVLAAESQDA
110 120 130 140 150
MEGWVKALSR ASFDYLRLVV RELEQQLAAV RGGGGMALPQ PQPQSLPLPP
160 170 180 190 200
SLPSALAPVP SLPSAPAPVP ALPLPRRPSA LPPKENGCAV WSTEATFRPG
210 220 230 240
PEPPPPPPRR RASAPHGPLD MAPFARLHEC YGQEIRALRG QWLSSRVQP
Length:249
Mass (Da):27,215
Last modified:October 1, 2002 - v1
Checksum:i73410C946DA6113A
GO
Isoform 2 (identifier: Q8N4B1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.
     124-138: EQQLAAVRGGGGMAL → MQKQRPREMNSLPGV

Note: No experimental confirmation available.

Show »
Length:126
Mass (Da):13,610
Checksum:i8AAF24512D83EDF9
GO
Isoform 3 (identifier: Q8N4B1-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-88: EGCTVELVEAAEEFAFAVRFAGTRA → VAVALWPRALSVSPWWLSQGSPDTP
     89-249: Missing.

Note: No experimental confirmation available.

Show »
Length:88
Mass (Da):9,957
Checksum:iA855A284B01643EF
GO
Isoform 4 (identifier: Q8N4B1-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAPGSPPGPAIATM

Note: No experimental confirmation available.

Show »
Length:262
Mass (Da):28,364
Checksum:i5886034B521FFCA4
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 123123Missing in isoform 2. 1 PublicationVSP_021239Add
BLAST
Alternative sequencei1 – 11M → MAPGSPPGPAIATM in isoform 4. 1 PublicationVSP_044836
Alternative sequencei64 – 8825EGCTV…AGTRA → VAVALWPRALSVSPWWLSQG SPDTP in isoform 3. 1 PublicationVSP_021241Add
BLAST
Alternative sequencei89 – 249161Missing in isoform 3. 1 PublicationVSP_021242Add
BLAST
Alternative sequencei124 – 13815EQQLA…GGMAL → MQKQRPREMNSLPGV in isoform 2. 1 PublicationVSP_021240Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056918 mRNA. Translation: BAB71310.1.
AC005805 Genomic DNA. No translation available.
BC014091 mRNA. Translation: AAH14091.1.
BC034809 mRNA. Translation: AAH34809.1.
CX758147 mRNA. No translation available.
CCDSiCCDS53833.1. [Q8N4B1-4]
CCDS9152.1. [Q8N4B1-1]
RefSeqiNP_001171467.1. NM_001177996.1. [Q8N4B1-4]
NP_001171468.1. NM_001177997.1. [Q8N4B1-1]
NP_653272.2. NM_144671.4. [Q8N4B1-1]
XP_006719320.1. XM_006719257.1. [Q8N4B1-1]
UniGeneiHs.173088.

Genome annotation databases

EnsembliENST00000361483; ENSP00000354461; ENSG00000198324. [Q8N4B1-4]
ENST00000547838; ENSP00000447353; ENSG00000198324. [Q8N4B1-1]
ENST00000548163; ENSP00000449994; ENSG00000198324. [Q8N4B1-1]
GeneIDi144717.
KEGGihsa:144717.
UCSCiuc001tsd.4. human. [Q8N4B1-1]

Polymorphism databases

DMDMi74728832.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056918 mRNA. Translation: BAB71310.1 .
AC005805 Genomic DNA. No translation available.
BC014091 mRNA. Translation: AAH14091.1 .
BC034809 mRNA. Translation: AAH34809.1 .
CX758147 mRNA. No translation available.
CCDSi CCDS53833.1. [Q8N4B1-4 ]
CCDS9152.1. [Q8N4B1-1 ]
RefSeqi NP_001171467.1. NM_001177996.1. [Q8N4B1-4 ]
NP_001171468.1. NM_001177997.1. [Q8N4B1-1 ]
NP_653272.2. NM_144671.4. [Q8N4B1-1 ]
XP_006719320.1. XM_006719257.1. [Q8N4B1-1 ]
UniGenei Hs.173088.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3QIS X-ray 2.30 B 223-235 [» ]
ProteinModelPortali Q8N4B1.
SMRi Q8N4B1. Positions 19-112.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126873. 3 interactions.
IntActi Q8N4B1. 1 interaction.
MINTi MINT-6778621.
STRINGi 9606.ENSP00000354461.

PTM databases

PhosphoSitei Q8N4B1.

Polymorphism databases

DMDMi 74728832.

Proteomic databases

MaxQBi Q8N4B1.
PaxDbi Q8N4B1.
PRIDEi Q8N4B1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361483 ; ENSP00000354461 ; ENSG00000198324 . [Q8N4B1-4 ]
ENST00000547838 ; ENSP00000447353 ; ENSG00000198324 . [Q8N4B1-1 ]
ENST00000548163 ; ENSP00000449994 ; ENSG00000198324 . [Q8N4B1-1 ]
GeneIDi 144717.
KEGGi hsa:144717.
UCSCi uc001tsd.4. human. [Q8N4B1-1 ]

Organism-specific databases

CTDi 144717.
GeneCardsi GC12M111798.
H-InvDB HIX0010998.
HGNCi HGNC:26509. FAM109A.
neXtProti NX_Q8N4B1.
PharmGKBi PA143485466.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG117159.
GeneTreei ENSGT00440000034671.
HOVERGENi HBG061708.
InParanoidi Q8N4B1.
OMAi TRARTYV.
OrthoDBi EOG7966HQ.
PhylomeDBi Q8N4B1.
TreeFami TF326731.

Miscellaneous databases

GenomeRNAii 144717.
NextBioi 35535063.
PROi Q8N4B1.

Gene expression databases

Bgeei Q8N4B1.
CleanExi HS_FAM109A.
ExpressionAtlasi Q8N4B1. baseline and differential.
Genevestigatori Q8N4B1.

Family and domain databases

Gene3Di 2.30.29.30. 1 hit.
InterProi IPR001849. PH_domain.
IPR011993. PH_like_dom.
[Graphical view ]
Pfami PF00169. PH. 1 hit.
[Graphical view ]
SMARTi SM00233. PH. 1 hit.
[Graphical view ]
PROSITEi PS50003. PH_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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 2).
    Tissue: Prostate.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-80 (ISOFORM 4).
    Tissue: Brain.
  4. "Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1."
    Swan L.E., Tomasini L., Pirruccello M., Lunardi J., De Camilli P.
    Proc. Natl. Acad. Sci. U.S.A. 107:3511-3516(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH OCRL AND INPP5B, SUBCELLULAR LOCATION, F&H MOTIF, MUTAGENESIS OF PHE-224 AND HIS-228.
  5. "The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway."
    Noakes C.J., Lee G., Lowe M.
    Mol. Biol. Cell 22:606-623(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH OCRL AND INPP5B, SUBUNIT, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-224; HIS-228 AND 234-GLU-ILE-235.
  6. "Recognition of the F&H motif by the Lowe syndrome protein OCRL."
    Pirruccello M., Swan L.E., Folta-Stogniew E., De Camilli P.
    Nat. Struct. Mol. Biol. 18:789-795(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 223-235 IN COMPLEX WITH OCRL, F&H MOTIF.

Entry informationi

Entry nameiSESQ1_HUMAN
AccessioniPrimary (citable) accession number: Q8N4B1
Secondary accession number(s): J3KP50, Q6PJL9, Q96MH8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2002
Last modified: November 26, 2014
This is version 89 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

Miscellaneous

Was named after 'sesquipedalian', an unnecessarily long description of a simple thing.1 Publication

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3