SOX5

Protein identityUniProt · HPA

UniProt accession

P35711

Gene

SOX5

Ensembl

ENSG00000134532

Chromosome

12

Canonical length

763 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

763 residues, UniProt reviewed canonical sequence.

>P35711|SOX5
     1  MLTDPDLPQE FERMSSKRPA SPYGEADGEV AMVTSRQKVE EEESDGLPAF HLPLHVSFPN
    61  KPHSEEFQPV SLLTQETCGH RTPTSQHNTM EVDGNKVMSS FAPHNSSTSP QKAEEGGRQS
   121  GESLSSTALG TPERRKGSLA DVVDTLKQRK MEELIKNEPE ETPSIEKLLS KDWKDKLLAM
   181  GSGNFGEIKG TPESLAEKER QLMGMINQLT SLREQLLAAH DEQKKLAASQ IEKQRQQMEL
   241  AKQQQEQIAR QQQQLLQQQH KINLLQQQIQ VQGQLPPLMI PVFPPDQRTL AAAAQQGFLL
   301  PPGFSYKAGC SDPYPVQLIP TTMAAAAAAT PGLGPLQLQQ LYAAQLAAMQ VSPGGKLPGI
   361  PQGNLGAAVS PTSIHTDKST NSPPPKSKDE VAQPLNLSAK PKTSDGKSPT SPTSPHMPAL
   421  RINSGAGPLK ASVPAALASP SARVSTIGYL NDHDAVTKAI QEARQMKEQL RREQQVLDGK
   481  VAVVNSLGLN NCRTEKEKTT LESLTQQLAV KQNEEGKFSH AMMDFNLSGD SDGSAGVSES
   541  RIYRESRGRG SNEPHIKRPM NAFMVWAKDE RRKILQAFPD MHNSNISKIL GSRWKAMTNL
   601  EKQPYYEEQA RLSKQHLEKY PDYKYKPRPK RTCLVDGKKL RIGEYKAIMR NRRQEMRQYF
   661  NVGQQAQIPI ATAGVVYPGA IAMAGMPSPH LPSEHSSVSS SPEPGMPVIQ STYGVKGEEP
   721  HIKEEIQAED INGEIYDEYD EEEDDPDVDY GSDSENHIAG QAN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.63

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX5.

Disease | AllUniProt

Conditions SOX5 is implicated in, by any mechanism.

• Lamb-Shaffer syndrome (LAMSHF) MIM:616803

Disease | GeneticClinVar

86 pathogenic / likely-pathogenic of 324 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Lamb-Shaffer syndrome
• Inborn genetic diseases
• Intellectual disability
• Generalized hypotonia
• Severe global developmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.19

gnomAD pLI

1

gnomAD missense Z

3.15

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• asymmetric neuroblast division
• cartilage condensation
• cartilage development
• cell fate commitment
• cellular response to transforming growth factor beta stimulus
• chondrocyte differentiation
• positive regulation of cartilage development
• positive regulation of chondrocyte differentiation
• positive regulation of mesenchymal stem cell differentiation
• regulation of transcription by RNA polymerase II
• transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• High mobility group box domain superfamily
• SOX/SOX-like transcription factors
• HMG (high mobility group) box

KeywordsUniProt

• Activator
• Coiled coil
• Differentiation
• DNA-binding
• Intellectual disability
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of SOX5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CRX
• NFIA
• NFIC
• TLE5