SHROOM1 - shroom family member 1 Gene

Also Known as APXL2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 134549

About SHROOM1

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,822,141-132,830,647 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues and 3 paralogues. Broad expression in prostate (RPKM 16.8), urinary bladder (RPKM 6.1) and 15 other tissues.

Summary

SHROOM family members play diverse roles in the development of the nervous system and Other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]

SHROOM1 Products (3)

mRNA Protein Name
NM_001172700.2 NP_001166171.1 protein Shroom1 isoform 1
NM_001410779.1 NP_001397708.1 protein Shroom1 isoform 3
NM_133456.3 NP_597713.2 protein Shroom1 isoform 2

SHROOM1 Protein Structure

ASD1

ASD1: Apx/Shroom domain ASD1 (138 - 236)

ASD2

ASD2: Apx/Shroom domain ASD2 (543 - 824)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 852 a.a.
Protein Preferred Names Protein Names

protein Shroom1

  • apical protein 2

Related Diseases

Diseases Alias
Retroperitoneum Carcinoma
  • Retroperitoneal Cancer

  • Malignant Neoplasm Of Retroperitoneum And Peritoneum

  • Retroperitoneal Neoplasms

  • Carcinoma Of Retroperitoneum

  • Carcinoma Of The Retroperitoneum

  • Malignant Neoplasm Of Retroperitoneum

  • Malignant Retroperitoneal Cancer

  • Malignant Tumor Of Peritoneum And Retroperitoneum

  • Neoplasm Of Retroperitoneum

  • Neoplasm Of The Retroperitoneum

  • Retroperitoneal Neoplasm

  • Tumor Of Retroperitoneum

  • Malignant Retroperitoneal Tumour

  • Primary Malignant Neoplasm Of Retroperitoneum

  • Retroperitoneum Cancer

Transient Arthritis
Deafness, Autosomal Recessive 100
  • DFNB100

  • Autosomal Recessive Nonsyndromic Deafness 100

  • Autosomal Recessive Deafness 100

  • Deafness, Autosomal Recessive, 100

Atrial Septal Defect 2
  • ASD2

  • Atrial Heart Septal Defect 2

  • Atrial Septal Defect-2

  • Asd Ii

  • Septal Defect, Atrial, Type 2

Palmoplantar Keratoderma, Punctate Type Ia
  • Keratosis Palmoplantaris Papulosa

  • Punctate Palmoplantar Keratoderma Type I

  • Ppkp1

  • Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type

  • PPKP1A

  • Kppp1

  • Punctate Palmoplantar Keratoderma Type 1

  • Palmoplantar Keratoderma, Punctate Type 1a

  • Palmoplantar Keratoderma, Punctate Type I

  • Keratoderma, Palmoplantar, Punctate Type Ia

  • Punctate Palmoplantar Keratoderma Type 1a

  • Punctate Palmoplantar Keratoderma Type 1b

  • Brauer-Buschke-Fischer Syndrome

  • Keratoderma, Palmoplantar Punctate Type 1

  • Type I Punctate Palmoplantar Keratoderma

  • Buschke-Fischer-Brauer Syndrome

  • Keratoderma, Palmoplantar, Punctate 1a

  • Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type

  • Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type

  • Punctate Palmoplantar Keratoderma Type Ia

  • Keratoderma, Palmoplantar, Punctate Type 1

  • Keratoderma, Palmoplantar, Punctate, Type Ia

Retroperitoneal Sarcoma
Atrial Heart Septal Defect
  • Atrial Septal Defect

  • Atrial Septal Defects

  • Atrioseptal Defect

  • Auricular Septal Defect

  • Congenital Atrial Septal Defect

  • Interatrial Septal Defect

  • Interauricular Septal Defect

  • Heart Septal Defects, Atrial

  • Septal Defect, Atrial

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
Felis catus SHROOM1 VGNC VGNC:65133
Canis familiaris SHROOM1 VGNC VGNC:46156
Mus musculus SHROOM1 MGD MGI:1919024
Bos taurus SHROOM1 VGNC VGNC:34608
Macaca mulatta SHROOM1 VGNC VGNC:77299
Rattus norvegicus SHROOM1 RGD RGD:1308066
Others SHROOM1 NCBI