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Q9Y5X0

- SNX10_HUMAN

UniProt

Q9Y5X0 - SNX10_HUMAN

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Protein

Sorting nexin-10

Gene

SNX10

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

Functioni

Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.3 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei53 – 531Phosphatidylinositol 3-phosphateCurated
Binding sitei79 – 791Phosphatidylinositol 3-phosphateCurated
Binding sitei94 – 941Phosphatidylinositol 3-phosphateCurated

GO - Molecular functioni

  1. 1-phosphatidylinositol binding Source: UniProtKB
  2. ATPase binding Source: UniProtKB

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. endosome organization Source: UniProtKB
  3. intracellular protein transport Source: RefGenome
  4. osteoclast differentiation Source: UniProtKB
  5. protein localization to centrosome Source: UniProtKB
  6. protein localization to cilium Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Keywords - Ligandi

Lipid-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Sorting nexin-10
Gene namesi
Name:SNX10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:14974. SNX10.

Subcellular locationi

GO - Cellular componenti

  1. cytoskeleton Source: UniProtKB-KW
  2. endoplasmic reticulum Source: UniProtKB
  3. extrinsic component of endosome membrane Source: UniProtKB
  4. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161R → L in OPTB8. 1 Publication
VAR_069299
Natural varianti32 – 321Y → S in OPTB8. 1 Publication
VAR_069300
Natural varianti51 – 511R → P in OPTB8. 1 Publication
VAR_069301
Natural varianti51 – 511R → Q in OPTB8; increased expression, produces extensive cytoplasmic vacuolation and impairs bone resorptive function. 1 Publication
VAR_069302

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi53 – 531R → A: Abolishes vacuolization induced by overexpression. 1 Publication
Mutagenesisi79 – 791K → A: Slightly reduced vacuolization induced by overexpression. 1 Publication
Mutagenesisi94 – 941R → A: Reduced vacuolization induced by overexpression. 1 Publication

Keywords - Diseasei

Disease mutation, Osteopetrosis

Organism-specific databases

MIMi615085. phenotype.
Orphaneti667. Autosomal recessive malignant osteopetrosis.
PharmGKBiPA37950.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 201201Sorting nexin-10PRO_0000213854Add
BLAST

Proteomic databases

MaxQBiQ9Y5X0.
PaxDbiQ9Y5X0.
PRIDEiQ9Y5X0.

PTM databases

PhosphoSiteiQ9Y5X0.

Expressioni

Gene expression databases

BgeeiQ9Y5X0.
CleanExiHS_SNX10.
ExpressionAtlasiQ9Y5X0. baseline and differential.
GenevestigatoriQ9Y5X0.

Organism-specific databases

HPAiHPA015605.

Interactioni

Subunit structurei

Interacts with ATP6V1D; may play a role in ciliogenesis.1 Publication

Protein-protein interaction databases

BioGridi118940. 2 interactions.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4ON3X-ray2.60A/B1-201[»]
4PZGX-ray2.80A/B1-201[»]
ProteinModelPortaliQ9Y5X0.
SMRiQ9Y5X0. Positions 9-132.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini10 – 127118PXPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni8 – 125118Required for the interaction with ATP6V1DAdd
BLAST

Domaini

The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.

Sequence similaritiesi

Belongs to the sorting nexin family.Curated
Contains 1 PX (phox homology) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG315047.
GeneTreeiENSGT00650000093174.
HOGENOMiHOG000231108.
HOVERGENiHBG054994.
InParanoidiQ9Y5X0.
KOiK17924.
PhylomeDBiQ9Y5X0.
TreeFamiTF332117.

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiIPR001683. Phox.
[Graphical view]
PfamiPF00787. PX. 1 hit.
[Graphical view]
SMARTiSM00312. PX. 1 hit.
[Graphical view]
SUPFAMiSSF64268. SSF64268. 1 hit.
PROSITEiPS50195. PX. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y5X0-1) [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
MFPEQQKEEF VSVWVRDPRI QKEDFWHSYI DYEICIHTNS MCFTMKTSCV
60 70 80 90 100
RRRYREFVWL RQRLQSNALL VQLPELPSKN LFFNMNNRQH VDQRRQGLED
110 120 130 140 150
FLRKVLQNAL LLSDSSLHLF LQSHLNSEDI EACVSGQTKY SVEEAIHKFA
160 170 180 190 200
LMNRRFPEED EEGKKENDID YDSESSSSGL GHSSDDSSSH GCKVNTAPQE

S
Length:201
Mass (Da):23,598
Last modified:September 2, 2008 - v2
Checksum:i665B80734D5E5C72
GO
Isoform 2 (identifier: Q9Y5X0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.

Note: No experimental confirmation available.

Show »
Length:117
Mass (Da):13,181
Checksum:i1AE71FD546A428CA
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161R → L in OPTB8. 1 Publication
VAR_069299
Natural varianti32 – 321Y → S in OPTB8. 1 Publication
VAR_069300
Natural varianti51 – 511R → P in OPTB8. 1 Publication
VAR_069301
Natural varianti51 – 511R → Q in OPTB8; increased expression, produces extensive cytoplasmic vacuolation and impairs bone resorptive function. 1 Publication
VAR_069302
Natural varianti187 – 1871S → I.1 Publication
Corresponds to variant rs1053042 [ dbSNP | Ensembl ].
VAR_046098

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8484Missing in isoform 2. 1 PublicationVSP_045920Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF121860 mRNA. Translation: AAD27833.1.
AK309162 mRNA. No translation available.
AK312850 mRNA. Translation: BAG35703.1.
AC004540 Genomic DNA. No translation available.
AC010677 Genomic DNA. No translation available.
AC074295 Genomic DNA. No translation available.
CH236948 Genomic DNA. Translation: EAL24234.1.
CH471073 Genomic DNA. Translation: EAW93849.1.
BC034992 mRNA. Translation: AAH34992.1.
CCDSiCCDS5399.1. [Q9Y5X0-1]
CCDS56470.1. [Q9Y5X0-2]
RefSeqiNP_001186764.1. NM_001199835.1. [Q9Y5X0-1]
NP_001186766.1. NM_001199837.1.
NP_001186767.1. NM_001199838.1. [Q9Y5X0-2]
NP_037454.2. NM_013322.2. [Q9Y5X0-1]
XP_006715773.1. XM_006715710.1. [Q9Y5X0-1]
XP_006715774.1. XM_006715711.1. [Q9Y5X0-1]
XP_006715775.1. XM_006715712.1. [Q9Y5X0-1]
UniGeneiHs.741316.

Genome annotation databases

EnsembliENST00000338523; ENSP00000343709; ENSG00000086300. [Q9Y5X0-1]
ENST00000396376; ENSP00000379661; ENSG00000086300. [Q9Y5X0-1]
ENST00000409838; ENSP00000386540; ENSG00000086300. [Q9Y5X0-2]
ENST00000446848; ENSP00000395474; ENSG00000086300. [Q9Y5X0-1]
GeneIDi29887.
KEGGihsa:29887.
UCSCiuc003sxx.3. human. [Q9Y5X0-1]

Polymorphism databases

DMDMi205371824.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF121860 mRNA. Translation: AAD27833.1 .
AK309162 mRNA. No translation available.
AK312850 mRNA. Translation: BAG35703.1 .
AC004540 Genomic DNA. No translation available.
AC010677 Genomic DNA. No translation available.
AC074295 Genomic DNA. No translation available.
CH236948 Genomic DNA. Translation: EAL24234.1 .
CH471073 Genomic DNA. Translation: EAW93849.1 .
BC034992 mRNA. Translation: AAH34992.1 .
CCDSi CCDS5399.1. [Q9Y5X0-1 ]
CCDS56470.1. [Q9Y5X0-2 ]
RefSeqi NP_001186764.1. NM_001199835.1. [Q9Y5X0-1 ]
NP_001186766.1. NM_001199837.1.
NP_001186767.1. NM_001199838.1. [Q9Y5X0-2 ]
NP_037454.2. NM_013322.2. [Q9Y5X0-1 ]
XP_006715773.1. XM_006715710.1. [Q9Y5X0-1 ]
XP_006715774.1. XM_006715711.1. [Q9Y5X0-1 ]
XP_006715775.1. XM_006715712.1. [Q9Y5X0-1 ]
UniGenei Hs.741316.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4ON3 X-ray 2.60 A/B 1-201 [» ]
4PZG X-ray 2.80 A/B 1-201 [» ]
ProteinModelPortali Q9Y5X0.
SMRi Q9Y5X0. Positions 9-132.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118940. 2 interactions.

PTM databases

PhosphoSitei Q9Y5X0.

Polymorphism databases

DMDMi 205371824.

Proteomic databases

MaxQBi Q9Y5X0.
PaxDbi Q9Y5X0.
PRIDEi Q9Y5X0.

Protocols and materials databases

DNASUi 29887.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000338523 ; ENSP00000343709 ; ENSG00000086300 . [Q9Y5X0-1 ]
ENST00000396376 ; ENSP00000379661 ; ENSG00000086300 . [Q9Y5X0-1 ]
ENST00000409838 ; ENSP00000386540 ; ENSG00000086300 . [Q9Y5X0-2 ]
ENST00000446848 ; ENSP00000395474 ; ENSG00000086300 . [Q9Y5X0-1 ]
GeneIDi 29887.
KEGGi hsa:29887.
UCSCi uc003sxx.3. human. [Q9Y5X0-1 ]

Organism-specific databases

CTDi 29887.
GeneCardsi GC07P026331.
HGNCi HGNC:14974. SNX10.
HPAi HPA015605.
MIMi 614780. gene.
615085. phenotype.
neXtProti NX_Q9Y5X0.
Orphaneti 667. Autosomal recessive malignant osteopetrosis.
PharmGKBi PA37950.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315047.
GeneTreei ENSGT00650000093174.
HOGENOMi HOG000231108.
HOVERGENi HBG054994.
InParanoidi Q9Y5X0.
KOi K17924.
PhylomeDBi Q9Y5X0.
TreeFami TF332117.

Miscellaneous databases

ChiTaRSi SNX10. human.
GenomeRNAii 29887.
NextBioi 52427.
PROi Q9Y5X0.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y5X0.
CleanExi HS_SNX10.
ExpressionAtlasi Q9Y5X0. baseline and differential.
Genevestigatori Q9Y5X0.

Family and domain databases

Gene3Di 3.30.1520.10. 1 hit.
InterProi IPR001683. Phox.
[Graphical view ]
Pfami PF00787. PX. 1 hit.
[Graphical view ]
SMARTi SM00312. PX. 1 hit.
[Graphical view ]
SUPFAMi SSF64268. SSF64268. 1 hit.
PROSITEi PS50195. PX. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A large family of endosome-localized proteins related to sorting nexin 1."
    Teasdale R.D., Loci D., Houghton F., Karlsson L., Gleeson P.A.
    Biochem. J. 358:7-16(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, VARIANT ILE-187.
  2. "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] (ISOFORMS 1 AND 2).
    Tissue: Kidney and Thalamus.
  3. "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].
  4. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 1).
    Tissue: Testis.
  7. "Sorting nexin 10 induces giant vacuoles in mammalian cells."
    Qin B., He M., Chen X., Pei D.
    J. Biol. Chem. 281:36891-36896(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-53; LYS-79 AND ARG-94.
  8. "A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo."
    Chen Y., Wu B., Xu L., Li H., Xia J., Yin W., Li Z., Shi D., Li S., Lin S., Shu X., Pei D.
    Cell Res. 22:333-345(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN CILIOGENESIS, INTERACTION WITH ATP6V1D, SUBCELLULAR LOCATION.
  9. "SNX10 is required for osteoclast formation and resorption activity."
    Zhu C.H., Morse L.R., Battaglino R.A.
    J. Cell. Biochem. 113:1608-1615(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  10. "Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia."
    Megarbane A., Pangrazio A., Villa A., Chouery E., Maarawi J., Sabbagh S., Lefranc G., Sobacchi C.
    Eur. J. Med. Genet. 56:32-35(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN OPTB8.
  11. Cited for: VARIANT OPTB8 GLN-51, CHARACTERIZATION OF VARIANT OPTB8 GLN-51, FUNCTION IN BONE RESORPTION.
  12. Cited for: VARIANTS OPTB8 LEU-16; SER-32 AND PRO-51.

Entry informationi

Entry nameiSNX10_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5X0
Secondary accession number(s): E9PFH5, Q8IYT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: September 2, 2008
Last modified: November 26, 2014
This is version 113 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

3D-structure, 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3