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Q9HBG4 (VPP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
V-type proton ATPase 116 kDa subunit a isoform 4

Short name=V-ATPase 116 kDa isoform a4
Alternative name(s):
Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4
Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
Gene names
Name:ATP6V0A4
Synonyms:ATP6N1B, ATP6N2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length840 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney By similarity.

Subunit structure

The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''.

Subcellular location

Apical cell membrane; Multi-pass membrane protein. Note: Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.

Tissue specificity

Expressed in adult and fetal kidney. Found in the inner ear. Ref.7

Involvement in disease

Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7

Sequence similarities

Belongs to the V-ATPase 116 kDa subunit family.

Ontologies

Keywords
   Biological processHydrogen ion transport
Ion transport
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP hydrolysis coupled proton transport

Inferred from electronic annotation. Source: Ensembl

cellular iron ion homeostasis

Traceable author statement. Source: Reactome

excretion

Inferred from mutant phenotype Ref.7. Source: HGNC

insulin receptor signaling pathway

Traceable author statement. Source: Reactome

interaction with host

Traceable author statement. Source: Reactome

ossification

Inferred from mutant phenotype Ref.1. Source: HGNC

phagosome maturation

Traceable author statement. Source: Reactome

proton transport

Inferred from mutant phenotype Ref.1. Source: HGNC

regulation of pH

Inferred from mutant phenotype Ref.1. Source: HGNC

sensory perception of sound

Inferred from mutant phenotype Ref.7. Source: HGNC

transferrin transport

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentapical part of cell

Inferred from direct assay PubMed 14675051. Source: UniProtKB

apical plasma membrane

Inferred from direct assay PubMed 12649290PubMed 15800125. Source: UniProtKB

brush border membrane

Inferred from direct assay PubMed 14638902. Source: HGNC

endosome

Inferred from sequence or structural similarity. Source: UniProtKB

endosome membrane

Traceable author statement. Source: Reactome

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 19199708. Source: UniProt

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

lysosomal membrane

Inferred from direct assay PubMed 17897319. Source: UniProtKB

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

plasma membrane

Inferred from direct assay PubMed 17360703. Source: UniProtKB

vacuolar proton-transporting V-type ATPase, V0 domain

Inferred from electronic annotation. Source: InterPro

   Molecular_functionATPase binding

Inferred from physical interaction PubMed 17360703. Source: UniProtKB

hydrogen ion transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 840840V-type proton ATPase 116 kDa subunit a isoform 4
PRO_0000119219

Regions

Topological domain1 – 390390Cytoplasmic Potential
Transmembrane391 – 40919Helical; Potential
Topological domain410 – 4112Vacuolar Potential
Transmembrane412 – 42817Helical; Potential
Topological domain429 – 44315Cytoplasmic Potential
Transmembrane444 – 47330Helical; Potential
Topological domain474 – 53865Vacuolar Potential
Transmembrane539 – 55820Helical; Potential
Topological domain559 – 57618Cytoplasmic Potential
Transmembrane577 – 59721Helical; Potential
Topological domain598 – 64245Vacuolar Potential
Transmembrane643 – 66220Helical; Potential
Topological domain663 – 72765Cytoplasmic Potential
Transmembrane728 – 75225Helical; Potential
Topological domain753 – 77321Vacuolar Potential
Transmembrane774 – 81239Helical; Potential
Topological domain813 – 84028Cytoplasmic Potential

Natural variations

Natural variant21V → A. Ref.1 Ref.2
Corresponds to variant rs10258719 [ dbSNP | Ensembl ].
VAR_020992
Natural variant1751G → D in RTADR. Ref.7
VAR_020993
Natural variant2371Missing in RTADR. Ref.7
VAR_020994
Natural variant4491R → H in RTADR. Ref.7
VAR_020995
Natural variant5241P → L in RTADR. Ref.1
VAR_017255
Natural variant5541F → L.
Corresponds to variant rs1026435 [ dbSNP | Ensembl ].
VAR_066612
Natural variant5801M → T in RTADR. Ref.1
Corresponds to variant rs3807153 [ dbSNP | Ensembl ].
VAR_017256
Natural variant6041H → Q.
Corresponds to variant rs3807154 [ dbSNP | Ensembl ].
VAR_066613
Natural variant8071R → Q in RTADR. Ref.7
Corresponds to variant rs28939081 [ dbSNP | Ensembl ].
VAR_020996
Natural variant8201G → R in RTADR. Ref.1
VAR_017257

Experimental info

Sequence conflict2521P → R in AAI09305. Ref.6
Sequence conflict2521P → R in AAI09306. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q9HBG4 [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: 449964EBC01D4649

FASTA84096,386
        10         20         30         40         50         60 
MVSVFRSEEM CLSQLFLQVE AAYCCVAELG ELGLVQFKDL NMNVNSFQRK FVNEVRRCES 

        70         80         90        100        110        120 
LERILRFLED EMQNEIVVQL LEKSPLTPLP REMITLETVL EKLEGELQEA NQNQQALKQS 

       130        140        150        160        170        180 
FLELTELKYL LKKTQDFFET ETNLADDFFT EDTSGLLELK AVPAYMTGKL GFIAGVINRE 

       190        200        210        220        230        240 
RMASFERLLW RICRGNVYLK FSEMDAPLED PVTKEEIQKN IFIIFYQGEQ LRQKIKKICD 

       250        260        270        280        290        300 
GFRATVYPCP EPAVERREML ESVNVRLEDL ITVITQTESH RQRLLQEAAA NWHSWLIKVQ 

       310        320        330        340        350        360 
KMKAVYHILN MCNIDVTQQC VIAEIWFPVA DATRIKRALE QGMELSGSSM APIMTTVQSK 

       370        380        390        400        410        420 
TAPPTFNRTN KFTAGFQNIV DAYGVGSYRE INPAPYTIIT FPFLFAVMFG DCGHGTVMLL 

       430        440        450        460        470        480 
AALWMILNER RLLSQKTDNE IWNTFFHGRY LILLMGIFSI YTGLIYNDCF SKSLNIFGSS 

       490        500        510        520        530        540 
WSVQPMFRNG TWNTHVMEES LYLQLDPAIP GVYFGNPYPF GIDPIWNLAS NKLTFLNSYK 

       550        560        570        580        590        600 
MKMSVILGIV QMVFGVILSL FNHIYFRRTL NIILQFIPEM IFILCLFGYL VFMIIFKWCC 

       610        620        630        640        650        660 
FDVHVSQHAP SILIHFINMF LFNYSDSSNA PLYKHQQEVQ SFFVVMALIS VPWMLLIKPF 

       670        680        690        700        710        720 
ILRASHRKSQ LQASRIQEDA TENIEGDSSS PSSRSGQRTS ADTHGALDDH GEEFNFGDVF 

       730        740        750        760        770        780 
VHQAIHTIEY CLGCISNTAS YLRLWALSLA HAQLSEVLWT MVMNSGLQTR GWGGIVGVFI 

       790        800        810        820        830        840 
IFAVFAVLTV AILLIMEGLS AFLHALRLHW VEFQNKFYVG DGYKFSPFSF KHILDGTAEE 

« Hide

References

« Hide 'large scale' references
[1]"Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing."
Smith A.N., Skaug J., Choate K.A., Nayir A., Bakkaloglu A., Ozen S., Hulton S.A., Sanjad S.A., Al-Sabban E.A., Lifton R.P., Scherer S.W., Karet F.E.
Nat. Genet. 26:71-75(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS RTADR LEU-524; THR-580 AND ARG-820, VARIANT ALA-2.
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. expand/collapse author list , 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], VARIANT ALA-2.
Tissue: Trachea.
[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. 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].
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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].
[7]"Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss."
Stover E.H., Borthwick K.J., Bavalia C., Eady N., Fritz D.M., Rungroj N., Giersch A.B.S., Morton C.C., Axon P.R., Akil I., Al-Sabban E.A., Baguley D.M., Bianca S., Bakkaloglu A., Bircan Z., Chauveau D., Clermont M.-J., Guala A. expand/collapse author list , Hulton S.A., Kroes H., Li Volti G., Mir S., Mocan H., Nayir A., Ozen S., Rodriguez Soriano J., Sanjad S.A., Tasic V., Taylor C.M., Topaloglu R., Smith A.N., Karet F.E.
J. Med. Genet. 39:796-803(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, VARIANTS RTADR ASP-175; LYS-237 DEL; HIS-449 AND GLN-807.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF245517 mRNA. Translation: AAG11415.1.
AK292945 mRNA. Translation: BAF85634.1.
AC018663 Genomic DNA. No translation available.
AC020983 Genomic DNA. No translation available.
CH236950 Genomic DNA. Translation: EAL24043.1.
CH471070 Genomic DNA. Translation: EAW83892.1.
BC109304 mRNA. Translation: AAI09305.1.
BC109305 mRNA. Translation: AAI09306.1.
RefSeqNP_065683.2. NM_020632.2.
NP_570855.2. NM_130840.2.
NP_570856.2. NM_130841.2.
XP_005250450.1. XM_005250393.1.
XP_005250451.1. XM_005250394.1.
UniGeneHs.98967.

3D structure databases

ProteinModelPortalQ9HBG4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119097. 2 interactions.
STRING9606.ENSP00000253856.

Protein family/group databases

TCDB3.A.2.2.4. the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily.

PTM databases

PhosphoSiteQ9HBG4.

Polymorphism databases

DMDM308153516.

Proteomic databases

PaxDbQ9HBG4.
PRIDEQ9HBG4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310018; ENSP00000308122; ENSG00000105929.
ENST00000353492; ENSP00000253856; ENSG00000105929.
ENST00000393054; ENSP00000376774; ENSG00000105929.
GeneID50617.
KEGGhsa:50617.
UCSCuc003vuf.3. human.

Organism-specific databases

CTD50617.
GeneCardsGC07M138391.
H-InvDBHIX0007123.
HGNCHGNC:866. ATP6V0A4.
HPAHPA018029.
MIM602722. phenotype.
605239. gene.
neXtProtNX_Q9HBG4.
Orphanet93609. Autosomal recessive distal renal tubular acidosis without deafness.
PharmGKBPA25147.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1269.
HOGENOMHOG000037059.
HOVERGENHBG014606.
InParanoidQ9HBG4.
KOK02154.
OMASWVIKVQ.
OrthoDBEOG74FF04.
PhylomeDBQ9HBG4.
TreeFamTF300346.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000105929-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ9HBG4.
CleanExHS_ATP6V0A4.
GenevestigatorQ9HBG4.

Family and domain databases

InterProIPR002490. V-ATPase_116kDa_su.
IPR026028. V-type_ATPase_116kDa_su_euka.
[Graphical view]
PANTHERPTHR11629. PTHR11629. 1 hit.
PfamPF01496. V_ATPase_I. 1 hit.
[Graphical view]
PIRSFPIRSF001293. ATP6V0A1. 1 hit.
ProtoNetSearch...

Other

GeneWikiATP6V0A4.
GenomeRNAi50617.
NextBio53132.
PROQ9HBG4.
SOURCESearch...

Entry information

Entry nameVPP4_HUMAN
AccessionPrimary (citable) accession number: Q9HBG4
Secondary accession number(s): A4D1R4, A8KA80, Q32M47
Entry history
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: October 5, 2010
Last modified: April 16, 2014
This is version 110 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

SIMILARITY comments

Index of protein domains and families

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