RPS29 - ribosomal protein S29 Gene

Also Known as S29; uS14; DBA13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6235

About RPS29

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,570,988-49,598,710 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 132.6), ovary (RPKM 125.8) and 25 other tissues.

Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]

RPS29 Products (3)

mRNA Protein Name
NM_001030001.4 NP_001025172.1 40S ribosomal protein S29 isoform 2
NM_001032.5 NP_001023.1 40S ribosomal protein S29 isoform 1
NM_001351375.2 NP_001338304.1 40S ribosomal protein S29 isoform 3
Molecular Function GO Annotation Evidence References Source
enables structural constituent of ribosome IDA
IDA: Inferred from direct assay
23636399 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
8781548 GOA
Biological Process GO Annotation Evidence References Source
involved in cytoplasmic translation IDA
IDA: Inferred from direct assay
25957688 GOA
Cellular Component GO Annotation Evidence References Source
part of cytosolic small ribosomal subunit IDA
IDA: Inferred from direct assay
8706699 GOA
located in ribosome IDA
IDA: Inferred from direct assay
25957688 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPS29 Protein Structure

Ribosomal_S14

Ribosomal_S14: Ribosomal protein S14p/S29e (5 - 55)

  • 0
  • 56 a.a.
Protein Preferred Names Protein Names

40S ribosomal protein S29

  • small ribosomal subunit protein uS14

Related Diseases

Diseases Alias
Diamond-Blackfan Anemia 13
  • DBA13

  • Rps29-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 13

Diamond-Blackfan Anemia
  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome

Macrocytic Anemia
  • Anemia Macrocytic

  • Anemia, Macrocytic

  • Macrocytic Anaemia

Retinitis Pigmentosa 14
  • RP14

  • Retinitis Pigmentosa Juvenile Tulp1-Related

  • Retinitis Pigmentosa-14

  • Retinitis Pigmentosa, Type 14

Shwachman-Diamond Syndrome 1
  • Shwachman-Diamond Syndrome

  • Shwachman Syndrome

  • Shwachman-Bodian-Diamond Syndrome

  • Sds

  • Pancreatic Insufficiency And Bone Marrow Dysfunction

  • Shwachman-Bodian Syndrome

  • SDS1

  • Lipomatosis Of Pancreas, Congenital

  • Congenital Lipomatosis Of Pancreas

  • Shwachman-Diamond Type Metaphyseal Dysplasia

  • Metaphyseal Chondrodysplasia, Shwachman Type

  • Shwachman-Diamond-Oski Syndrome

Dyskeratosis Congenita
  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus RPS29 MGD MGI:107681
Rattus norvegicus RPS29 RGD RGD:3596
Bos taurus RPS29 VGNC VGNC:34137
Others RPS29 NCBI