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Protein

Sodium-dependent phosphate transport protein 2A

Gene

SLC34A1

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

Functioni

May be involved in actively transporting phosphate into cells via Na+ cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.

GO - Molecular functioni

  1. sodium-dependent phosphate transmembrane transporter activity Source: UniProtKB
  2. symporter activity Source: UniProtKB-KW

GO - Biological processi

  1. arsenate ion transmembrane transport Source: Ensembl
  2. bone remodeling Source: Ensembl
  3. cellular response to metal ion Source: Ensembl
  4. cellular response to parathyroid hormone stimulus Source: Ensembl
  5. cellular response to staurosporine Source: Ensembl
  6. dentinogenesis Source: Ensembl
  7. gentamycin metabolic process Source: Ensembl
  8. glycoprotein metabolic process Source: Ensembl
  9. indole metabolic process Source: Ensembl
  10. ion transport Source: Reactome
  11. kidney development Source: Ensembl
  12. ossification Source: Ensembl
  13. phosphate ion homeostasis Source: UniProtKB
  14. phosphate ion transport Source: UniProtKB
  15. positive regulation of membrane potential Source: Ensembl
  16. positive regulation of phosphate transmembrane transport Source: Ensembl
  17. positive regulation of sodium-dependent phosphate transport Source: Ensembl
  18. protein homooligomerization Source: Ensembl
  19. response to cadmium ion Source: UniProtKB
  20. response to drug Source: Ensembl
  21. response to estradiol Source: Ensembl
  22. response to growth hormone Source: Ensembl
  23. response to lead ion Source: UniProtKB
  24. response to magnesium ion Source: Ensembl
  25. response to mercury ion Source: UniProtKB
  26. response to potassium ion Source: Ensembl
  27. response to thyroid hormone Source: Ensembl
  28. response to vitamin A Source: Ensembl
  29. sodium ion transport Source: UniProtKB-KW
  30. transmembrane transport Source: Reactome
  31. tricarboxylic acid metabolic process Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_19411. Type II Na+/Pi cotransporters.
SignaLinkiQ06495.

Protein family/group databases

TCDBi2.A.58.1.5. the phosphate:na(+) symporter (pnas) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent phosphate transport protein 2A
Short name:
Sodium-phosphate transport protein 2A
Alternative name(s):
Na(+)-dependent phosphate cotransporter 2A
NaPi-3
Sodium/phosphate cotransporter 2A
Short name:
Na(+)/Pi cotransporter 2A
Short name:
NaPi-2a
Solute carrier family 34 member 1
Gene namesi
Name:SLC34A1
Synonyms:NPT2, SLC17A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:11019. SLC34A1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 103103CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei104 – 12522Helical; Name=M1Sequence AnalysisAdd
BLAST
Topological domaini126 – 14520ExtracellularSequence AnalysisAdd
BLAST
Transmembranei146 – 16318Helical; Name=M2Sequence AnalysisAdd
BLAST
Topological domaini164 – 1652CytoplasmicSequence Analysis
Transmembranei166 – 18520Helical; Name=M3Sequence AnalysisAdd
BLAST
Topological domaini186 – 347162ExtracellularSequence AnalysisAdd
BLAST
Transmembranei348 – 37023Helical; Name=M4Sequence AnalysisAdd
BLAST
Topological domaini371 – 41242CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei413 – 43624Helical; Name=M5Sequence AnalysisAdd
BLAST
Topological domaini437 – 46630ExtracellularSequence AnalysisAdd
BLAST
Transmembranei467 – 48721Helical; Name=M6Sequence AnalysisAdd
BLAST
Topological domaini488 – 51326CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei514 – 53421Helical; Name=M7Sequence AnalysisAdd
BLAST
Topological domaini535 – 5395ExtracellularSequence Analysis
Transmembranei540 – 56122Helical; Name=M8Sequence AnalysisAdd
BLAST
Topological domaini562 – 63978CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. basolateral plasma membrane Source: Ensembl
  3. brush border membrane Source: UniProtKB
  4. cell surface Source: Ensembl
  5. endosome Source: Ensembl
  6. integral component of plasma membrane Source: UniProtKB
  7. membrane-bounded vesicle Source: Ensembl
  8. membrane raft Source: Ensembl
  9. perinuclear region of cytoplasm Source: Ensembl
  10. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)1 Publication

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

Disease descriptionA disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.

See also OMIM:612286
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481A → F in NPHLOP1; causes hypophosphatemic urolithiasis; requires 2 nucleotide substitutions; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect. 1 Publication
VAR_024765
Natural varianti147 – 1471V → M in NPHLOP1; causes hypophosphatemic osteoporosis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect. 1 Publication
VAR_024766
Fanconi renotubular syndrome 2 (FRTS2)1 Publication

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

Disease descriptionA disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.

See also OMIM:613388
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601V → VILVTVLV in FRTS2; loss of function in the homozygous state. 1 Publication
VAR_063812

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi612286. phenotype.
613388. phenotype.
Orphaneti244305. Dominant hypophosphatemia with nephrolithiasis or osteoporosis.
3337. Primary Fanconi syndrome.
PharmGKBiPA35887.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 639639Sodium-dependent phosphate transport protein 2APRO_0000068607Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi225 ↔ 522By similarity
Glycosylationi298 – 2981N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi306 ↔ 336By similarity
Glycosylationi323 – 3231N-linked (GlcNAc...)Sequence Analysis
Glycosylationi330 – 3301N-linked (GlcNAc...)Sequence Analysis
Modified residuei508 – 5081Phosphothreonine; by PKCSequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ06495.
PRIDEiQ06495.

PTM databases

PhosphoSiteiQ06495.

Expressioni

Tissue specificityi

Kidney and lung.

Gene expression databases

BgeeiQ06495.
CleanExiHS_SLC17A2.
HS_SLC34A1.
ExpressionAtlasiQ06495. baseline and differential.
GenevestigatoriQ06495.

Organism-specific databases

HPAiHPA051255.

Interactioni

Subunit structurei

Interacts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1.By similarity1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000321424.

Structurei

3D structure databases

ProteinModelPortaliQ06495.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC34A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1283.
GeneTreeiENSGT00390000005032.
HOGENOMiHOG000006550.
HOVERGENiHBG079110.
InParanoidiQ06495.
KOiK14683.
OMAiNHIFVDT.
OrthoDBiEOG72ZCDP.
PhylomeDBiQ06495.
TreeFamiTF313981.

Family and domain databases

InterProiIPR003841. Na/Pi_transpt.
IPR029848. Na/Pi_transpt_2A.
[Graphical view]
PANTHERiPTHR10010:SF21. PTHR10010:SF21. 1 hit.
PfamiPF02690. Na_Pi_cotrans. 2 hits.
[Graphical view]
TIGRFAMsiTIGR01013. 2a58. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q06495-1) [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
MLSYGERLGS PAVSPLPVRG GHVMRGTAFA YVPSPQVLHR IPGTSAYAFP
60 70 80 90 100
SLGPVALAEH TCPCGEVLER HEPLPAKLAL EEEQKPESRL VPKLRQAGAM
110 120 130 140 150
LLKVPLMLTF LYLFVCSLDM LSSAFQLAGG KVAGDIFKDN AILSNPVAGL
160 170 180 190 200
VVGILVTVLV QSSSTSTSII VSMVSSGLLE VSSAIPIIMG SNIGTSVTNT
210 220 230 240 250
IVALMQAGDR TDFRRAFAGA TVHDCFNWLS VLVLLPLEAA TGYLHHITRL
260 270 280 290 300
VVASFNIHGG RDAPDLLKII TEPFTKLIIQ LDESVITSIA TGDESLRNHS
310 320 330 340 350
LIQIWCHPDS LQAPTSMSRA EANSSQTLGN ATMEKCNHIF VDTGLPDLAV
360 370 380 390 400
GLILLAGSLV LLCTCLILLV KMLNSLLKGQ VAKVIQKVIN TDFPAPFTWV
410 420 430 440 450
TGYFAMVVGA SMTFVVQSSS VFTSAITPLI GLGVISIERA YPLTLGSNIG
460 470 480 490 500
TTTTAILAAL ASPREKLSSA FQIALCHFFF NISGILLWYP VPCTRLPIRM
510 520 530 540 550
AKALGKRTAK YRWFAVLYLL VCFLLLPSLV FGISMAGWQV MVGVGTPFGA
560 570 580 590 600
LLAFVVLINV LQSRSPGHLP KWLQTWDFLP RWMHSLKPLD HLITRATLCC
610 620 630
ARPEPRSPPL PPRVFLEELP PATPSPRLAL PAHHNATRL
Length:639
Mass (Da):68,937
Last modified:January 31, 1995 - v1
Checksum:i65D21D968C35D61B
GO
Isoform 2 (identifier: Q06495-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-639: APTSMSRAEA...LPAHHNATRL → QNLEGREITHFDLRKKQAMEDSSVPHCP

Show »
Length:340
Mass (Da):36,603
Checksum:i829AAD6A913307A4
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481A → F in NPHLOP1; causes hypophosphatemic urolithiasis; requires 2 nucleotide substitutions; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect. 1 Publication
VAR_024765
Natural varianti147 – 1471V → M in NPHLOP1; causes hypophosphatemic osteoporosis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect. 1 Publication
VAR_024766
Natural varianti160 – 1601V → VILVTVLV in FRTS2; loss of function in the homozygous state. 1 Publication
VAR_063812

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei313 – 639327APTSM…NATRL → QNLEGREITHFDLRKKQAME DSSVPHCP in isoform 2. 1 PublicationVSP_042311Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13258 mRNA. Translation: AAA36354.1.
AK298299 mRNA. Translation: BAG60555.1.
AC145098 Genomic DNA. No translation available.
CCDSiCCDS4418.1. [Q06495-1]
CCDS54953.1. [Q06495-2]
PIRiB48189.
RefSeqiNP_001161051.1. NM_001167579.1. [Q06495-2]
NP_003043.3. NM_003052.4. [Q06495-1]
XP_005266031.1. XM_005265974.1. [Q06495-1]
UniGeneiHs.936.

Genome annotation databases

EnsembliENST00000324417; ENSP00000321424; ENSG00000131183. [Q06495-1]
ENST00000512593; ENSP00000423022; ENSG00000131183. [Q06495-2]
GeneIDi6569.
KEGGihsa:6569.
UCSCiuc003mgk.4. human. [Q06495-1]
uc021yis.1. human. [Q06495-2]

Polymorphism databases

DMDMi730113.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13258 mRNA. Translation: AAA36354.1.
AK298299 mRNA. Translation: BAG60555.1.
AC145098 Genomic DNA. No translation available.
CCDSiCCDS4418.1. [Q06495-1]
CCDS54953.1. [Q06495-2]
PIRiB48189.
RefSeqiNP_001161051.1. NM_001167579.1. [Q06495-2]
NP_003043.3. NM_003052.4. [Q06495-1]
XP_005266031.1. XM_005265974.1. [Q06495-1]
UniGeneiHs.936.

3D structure databases

ProteinModelPortaliQ06495.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000321424.

Protein family/group databases

TCDBi2.A.58.1.5. the phosphate:na(+) symporter (pnas) family.

PTM databases

PhosphoSiteiQ06495.

Polymorphism databases

DMDMi730113.

Proteomic databases

PaxDbiQ06495.
PRIDEiQ06495.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324417; ENSP00000321424; ENSG00000131183. [Q06495-1]
ENST00000512593; ENSP00000423022; ENSG00000131183. [Q06495-2]
GeneIDi6569.
KEGGihsa:6569.
UCSCiuc003mgk.4. human. [Q06495-1]
uc021yis.1. human. [Q06495-2]

Organism-specific databases

CTDi6569.
GeneCardsiGC05P176812.
HGNCiHGNC:11019. SLC34A1.
HPAiHPA051255.
MIMi182309. gene.
612286. phenotype.
613388. phenotype.
neXtProtiNX_Q06495.
Orphaneti244305. Dominant hypophosphatemia with nephrolithiasis or osteoporosis.
3337. Primary Fanconi syndrome.
PharmGKBiPA35887.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1283.
GeneTreeiENSGT00390000005032.
HOGENOMiHOG000006550.
HOVERGENiHBG079110.
InParanoidiQ06495.
KOiK14683.
OMAiNHIFVDT.
OrthoDBiEOG72ZCDP.
PhylomeDBiQ06495.
TreeFamiTF313981.

Enzyme and pathway databases

ReactomeiREACT_19411. Type II Na+/Pi cotransporters.
SignaLinkiQ06495.

Miscellaneous databases

GeneWikiiSodium/phosphate_cotransporter.
GenomeRNAii6569.
NextBioi25559.
PROiQ06495.
SOURCEiSearch...

Gene expression databases

BgeeiQ06495.
CleanExiHS_SLC17A2.
HS_SLC34A1.
ExpressionAtlasiQ06495. baseline and differential.
GenevestigatoriQ06495.

Family and domain databases

InterProiIPR003841. Na/Pi_transpt.
IPR029848. Na/Pi_transpt_2A.
[Graphical view]
PANTHERiPTHR10010:SF21. PTHR10010:SF21. 1 hit.
PfamiPF02690. Na_Pi_cotrans. 2 hits.
[Graphical view]
TIGRFAMsiTIGR01013. 2a58. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Kidney.
  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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Kidney.
  3. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism."
    Courbebaisse M., Leroy C., Bakouh N., Salaun C., Beck L., Grandchamp B., Planelles G., Hall R.A., Friedlander G., Prie D.
    PLoS ONE 7:E34764-E34764(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SLC9A3R1.
  5. "Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter."
    Prie D., Huart V., Bakouh N., Planelles G., Dellis O., Gerard B., Hulin P., Benque-Blanchet F., Silve C., Grandchamp B., Friedlander G.
    N. Engl. J. Med. 347:983-991(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHLOP1 PHE-48 AND MET-147, CHARACTERIZATION OF VARIANTS NPHLOP1 PHE-48 AND MET-147.
  6. Cited for: VARIANT FRTS2 ILE-LEU-VAL-THR-VAL-LEU-VAL-160 INS, CHARACTERIZATION OF VARIANT FRTS2 ILE-LEU-VAL-THR-VAL-LEU-VAL-160 INS.

Entry informationi

Entry nameiNPT2A_HUMAN
AccessioniPrimary (citable) accession number: Q06495
Secondary accession number(s): B4DPE3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 1995
Last sequence update: January 31, 1995
Last modified: March 31, 2015
This is version 134 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 5
    Human chromosome 5: 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. SIMILARITY comments
    Index of protein domains and families

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.