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Homo sapiens

Last modified March 24, 2017

Human proteome

In 2008, a draft of the complete human proteome was released from UniProtKB/Swiss-Prot: the approximately 20,000 putative human protein-coding genes were represented by one UniProtKB/Swiss-Prot entry, tagged with the keyword ‘Complete proteome’ and later linked to proteome identifier UP000005640. This UniProtKB/Swiss-Prot H. sapiens proteome (manually reviewed) can be considered as complete in the sense that it contains one representative (canonical) sequence for each currently known human gene. About half of these 20’000 entries contain manually annotated alternative isoforms, representing over 22’000 additional sequences.

What is the human proteome?
How to retrieve sets of protein sequences?
UniProt web page: Chordata protein annotation program

Human diseases

This document lists the controlled vocabulary that is used for the annotation of human diseases in UniProtKB/Swiss-Prot. Each record in this file consists of a disease identifier, acronym, and description, as well as known disease synonyms, links to OMIM, Medical Subject Headings (MeSH) and associated UniProtKB keywords.

UniProtKB/Swiss-Prot document: Controlled vocabulary of human diseases
Related keyword: Disease mutation
Relevant UniProtKB/Swiss-Prot entries cross-referenced to the OMIM database

How can I get all the proteins involved in a given disease?
How can I get medical advice from UniProtKB?

Human entries with polymorphisms or disease mutations

This document lists UniProtKB/Swiss-Prot human entries that contain information on at least one sequence variant (polymorphism or disease-linked mutation).

UniProtKB/Swiss-Prot document: List of human entries with polymorphisms or mutations
Related keyword: Disease mutation
Related keyword: Polymorphism

Human polymorphisms and disease mutations

This document lists the human polymorphisms and disease mutations with their corresponding SNP cross-references.

UniProtKB/Swiss-Prot document: List of human polymorphisms and disease mutations
Amino acid altering variants imported from Ensembl Variation databases
Related keyword: Disease mutation
Related keyword: Polymorphism

MIM cross-references

This document lists the UniProtKB/Swiss-Prot entries and their corresponding MIM cross-references.

UniProtKB/Swiss-Prot document: MIM cross-references in UniProtKB/Swiss-Prot

Human blood group antigen proteins

Blood group antigens are surface markers on the outside of the red blood cell membrane. The relevant UniProtKB/Swiss-Prot entries are classified into 28 different blood group systems.

UniProtKB/Swiss-Prot document: Blood group antigen proteins
Related keyword: Blood group antigen

Human and mouse protein kinases

Phosphorylation by protein kinases is a universal cell-signaling fundamental process in eukaryotic cells. The list of all UniProtKB/Swiss-Prot human and mouse protein kinases, systematically classified (e.g. PKA, PKC, Tyr), is aimed at facilitating the retrieval of all kinases of the human and mouse kinomes.

UniProtKB/Swiss-Prot document: Human and mouse protein kinases
Related keywords: Kinase, Serine/threonine-protein kinase, Tyrosine-protein kinase

Human cell differentiation molecules (CD)

The CD nomenclature was intended for the classification of the monoclonal antibodies (mAbs), generated by laboratories around the world, against various cell surface molecules on leukocytes (white blood cells). CD antibodies are used widely for research, differential diagnosis, monitoring and treatment of disease.

UniProtKB/Swiss-Prot document: CD nomenclature of surface proteins of human leucocytes and list of entries
Relevant UniProtKB/Swiss-Prot entries with a protein name CD_antigen

List of entries found on human chromosomes

The following documents list the entries found on each human chromosome, with their chromosomal position, their corresponding gene and protein names and their cross-references to MIM.

Human chromosome 1
Human chromosome 2
Human chromosome 3
Human chromosome 4
Human chromosome 5
Human chromosome 6
Human chromosome 7
Human chromosome 8
Human chromosome 9
Human chromosome 10
Human chromosome 11
Human chromosome 12
Human chromosome 13
Human chromosome 14
Human chromosome 15
Human chromosome 16
Human chromosome 17
Human chromosome 18
Human chromosome 19
Human chromosome 20
Human chromosome 21
Human chromosome 22
Human chromosome X
Human chromosome Y

Related terms: humsavar.txt, humpvar.txt, humchr, bloodgrp.txt, mimtosp.txt