O94855 · SC24D_HUMAN

  • Protein
    Protein transport protein Sec24D
  • Gene
    SEC24D
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:18843296, PubMed:20427317).
Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:18843296, PubMed:20427317).
May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317).
May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296).

Features

Showing features for binding site.

110321002003004005006007008009001,000
TypeIDPosition(s)Description
Binding site363Zn2+ (UniProtKB | ChEBI)
Binding site366Zn2+ (UniProtKB | ChEBI)
Binding site385Zn2+ (UniProtKB | ChEBI)
Binding site388Zn2+ (UniProtKB | ChEBI)

GO annotations

AspectTerm
Cellular ComponentCOPII vesicle coat
Cellular Componentcytosol
Cellular Componentendoplasmic reticulum exit site
Cellular Componentendoplasmic reticulum membrane
Cellular ComponentER to Golgi transport vesicle membrane
Cellular Componentintracellular membrane-bounded organelle
Molecular FunctionSNARE binding
Molecular Functionzinc ion binding
Biological ProcessCOPII-coated vesicle cargo loading
Biological Processendoplasmic reticulum to Golgi vesicle-mediated transport
Biological Processin utero embryonic development
Biological Processintracellular protein transport

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Protein transport protein Sec24D
  • Alternative names
    • SEC24-related protein D

Gene names

    • Name
      SEC24D
    • Synonyms
      KIAA0755

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    O94855
  • Secondary accessions
    • Q8IYI7

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Cole-Carpenter syndrome 2 (CLCRP2)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive.
  • See also
    MIM:616294
Natural variants in CLCRP2
Variant IDPosition(s)ChangeDescription
VAR_073658978Q>Pin CLCRP2; dbSNP:rs786204846
VAR_0736591015S>Fin CLCRP2; dbSNP:rs760670617

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_04747242in dbSNP:rs10029206
Natural variantVAR_047473193in dbSNP:rs6844109
Natural variantVAR_047474496in dbSNP:rs11723368
Natural variantVAR_073658978in CLCRP2; dbSNP:rs786204846
Natural variantVAR_0736591015in CLCRP2; dbSNP:rs760670617

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 1,125 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue (large scale data), modified residue.

TypeIDPosition(s)SourceDescription
ChainPRO_00002051571-1032UniProtProtein transport protein Sec24D
Modified residue (large scale data)2PRIDEPhosphoserine
Modified residue (large scale data)22PRIDEPhosphoserine
Modified residue266UniProtPhosphoserine
Modified residue (large scale data)266PRIDEPhosphoserine
Modified residue (large scale data)826PRIDEPhosphoserine
Modified residue (large scale data)828PRIDEPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Ubiquitously expressed, with higher amounts in placenta, pancreas, heart and liver.

Gene expression databases

Organism-specific databases

Interaction

Subunit

COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (PubMed:17499046, PubMed:27551091).
Interacts with TMED2 and TMED10 (PubMed:20427317).
Interacts with CNIH4 (PubMed:24405750).
Interacts with GOSR2 (via IxM motif) and STX5 (via IxM motif); recruits GOSR2 and STX5 into COPII-coated vesicles (PubMed:18843296).
Interacts with KCNA3; this interaction is reduced in the presence of KCNE4 (PubMed:27802162).

Binary interactions

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for region, compositional bias, repeat.

TypeIDPosition(s)Description
Region1-260Disordered
Compositional bias94-137Polar residues
Compositional bias139-209Pro residues
Compositional bias219-233Polar residues
Region363-388Zinc finger-like
Repeat901-974Gelsolin-like

Sequence similarities

Belongs to the SEC23/SEC24 family. SEC24 subfamily.

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

O94855-1

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.

  • Length
    1,032
  • Mass (Da)
    113,010
  • Last updated
    2008-11-25 v2
  • Checksum
    B46E566F096F37F0
MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGAGYPPQQANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGGQVYATNTRGQIPPLVTTDCMIQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLAAVIKPFATIPSNESPLYLVNHGESGPVRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMKVLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSESRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRMIMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQLLN

O94855-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 6 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
E9PC44E9PC44_HUMANSEC24D393
D6RGJ5D6RGJ5_HUMANSEC24D165
D6RBM1D6RBM1_HUMANSEC24D211
D6RAE2D6RAE2_HUMANSEC24D67
E9PG84E9PG84_HUMANSEC24D305
E9PDM8E9PDM8_HUMANSEC24D663

Sequence caution

The sequence BAA34475.2 differs from that shown. Reason: Erroneous initiation Extended N-terminus.

Features

Showing features for compositional bias, alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Compositional bias94-137Polar residues
Compositional bias139-209Pro residues
Compositional bias219-233Polar residues
Alternative sequenceVSP_035761224in isoform 2
Sequence conflict559in Ref. 1; AAD28756 and 2; BAA34475

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AF130464
EMBL· GenBank· DDBJ
AAD28756.2
EMBL· GenBank· DDBJ
mRNA
AB018298
EMBL· GenBank· DDBJ
BAA34475.2
EMBL· GenBank· DDBJ
mRNA Different initiation
CH471229
EMBL· GenBank· DDBJ
EAW73656.1
EMBL· GenBank· DDBJ
Genomic DNA
BC035761
EMBL· GenBank· DDBJ
AAH35761.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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